Human genomic sequence. Medical search. Frequent questions

This document specifies the minimum requirements for generating and analysing whole genome sequencing (WGS) data of bacteria obtained from the food chain. (iso.org)
Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences. (ox.ac.uk)
Cheap whole-genome sequencing is of greatest importance to medical scientific research. (nature.com)
Whole-genome sequencing (WGS) can lead to whole-genome analysis (WGA), in which the meaning of the raw data obtained during sequencing is fleshed out. (nature.com)
Whole-genome screening creates a personal genomic database (personal genome) that can subsequently be used to deliver 'personalised medicine' to individual patients. (nature.com)
We had established a very robust metagenomic platform that enabled us to sequence the whole genome of the first SARS-CoV-2 in Africa from the first index case in Nigeria within 48 hours of receiving the samples. (nih.gov)
We realized that the whole genome sequencing and analytical pipelines that we set up for Ebola work seamlessly for SARS-CoV-2. (nih.gov)
The current study used whole genome sequencing to explore nasal Staphylococcus aureus obtained from hog slaughterhouse workers and their community members, all of whom resided in a livestock-dense region in rural North Carolina. (cdc.gov)
METHODS: Whole-genome sequencing was performed on 10 pre-extensively drug-resistant M. tuberculosis strains from different regions of Kazakhstan. (bvsalud.org)
Our DNA services includes whole genome, whole exome or targeted library preparation and sequencing on Illumina platforms. (lu.se)

These technologies are enabling ambitious genome sequencing endeavours, such as the 1000 Genomes Project and 1001 (Arabidopsis thaliana) Genomes Project. (wikipedia.org)
The notion of relative compression is obvious especially in genome re-sequencing projects where the aim is to discover variations in individual genomes. (wikipedia.org)
Bethesda, Md. , Wed., Sept. 4, 2013 - Can sequencing of newborns' genomes provide useful medical information beyond what current newborn screening already provides? (genome.gov)
Genomic sequencing examines the complete DNA blueprint of the cells, and exome sequencing is a strategy to selectively sequence exons, the short stretches of DNA within our genomes that code for proteins. (genome.gov)
We have sequenced the genomes of 18 isolates of the closely related human pathogenic fungi Coccidioides immitis and Coccidioides posadasii to more clearly elucidate population genomic structure, bringing the total number of sequenced genomes for each species to 10. (broadinstitute.org)
We find notable heterogeneity in repetitive sequence composition among the sequenced genomes and present the first detailed genome-wide profile of a repeat-induced point mutation (RIP) process distinctly different from what has been observed in Neurospora. (broadinstitute.org)
We study a median of 16,101 genes across 2 mammalian genomes (human, mouse), 12 Drosophila genomes, 5 Caenorhabditis genomes, and an outgroup yeast genome, and demonstrate that accurate inference of evolutionary relationships and events across these species must account for frequent gene-tree topology errors due to both incomplete lineage sorting and insufficient phylogenetic signal. (biorxiv.org)
This need is further intensified by the human ENCODE (ENCyclopedia Of DNA Elements), mouse ENCODE, and modENCODE (model organism ENCODE) projects, to enable systematic use of the results and to further studies of functional conservation and divergence across the human, mouse, fly, and worm genomes. (biorxiv.org)
How are genomes sequenced? (indiatimes.com)
Since the late 1990s, next-generation sequencing has revolutionized how researchers collect data on and understand genomes. (indiatimes.com)
For example, the Illumina NovaSeq can sequence roughly 150 billion nucleotides, the equivalent of 48 human genomes, in just three days. (indiatimes.com)
GPHPD was screened for CDC/ATSDR-authored publications about human genomics, including articles that assessed non-human genomes (e.g., pathogens, vectors). (cdc.gov)
More importantly we quickly sequenced 99 genomes and made them available to the international research community for the development of various countermeasures. (nih.gov)
To better understand the impact of these mutations on LVS' immunogenicity, we sequenced the genomes of LVS-G and LVS-R as well as our parental laboratory stock of LVS, originally obtained from ATCC, and compared these to the F. tularensis subsp. (fda.gov)
As of August 10, 2000, draft sequence was available for 87% of the human genome (https://www.ncbi.nlm.nih.gov/genome/seq/), and at least 39 prokaryotic genomes, including those of more than a dozen human pathogens, had been completely sequenced https://www.tigr.org/tdb/mdb/mdbcomplete.html). (medscape.com)
Several independent high-throughput methods for differential gene expression (including SAGE and differential display) may enable function annotation of sequenced genomes [ 2 ] . (medscape.com)

This guideline, in conjunction with instructional worksheets and educational examples, provides step-by-step recommendations for design, development, validation, results reporting, and continual quality management of clinical tests based on next-generation sequencing and Sanger sequencing. (clsi.org)
Oncologica's Next generation sequencing platform captures 764 of the leading anti-cancer targeted medicine drug combinations and immunotherapies via analysis of actionable genomic mutations across 505 genes. (businesswire.com)
Several methods exist for the prediction of precursor miRNAs (pre-miRNAs) in genomic or sRNA-seq (small RNA sequences) data produced by NGS (Next Generation Sequencing). (biomedcentral.com)
Massively parallel or next-generation sequencing (NGS) technologies eliminated the need for multiple personnel working on a genome by automating DNA cleavage , amplification , and parallel short-read sequencing on a single instrument, thereby lowering costs and increasing throughput," the AJLM paper noted. (darkdaily.com)
Next-generation sequencing technologies have made sequencing much easier, faster and cheaper than Sanger sequencing," the AJLM study authors noted. (darkdaily.com)
Next-generation sequencing (NGS) technology has been rapidly adopted in clinical practice, with the scope extended to early diagnosis, disease classification, and treatment planning. (jmir.org)
The advent of Next-Generation Sequencing (NGS) technologies has allowed the investigation of multiple areas of human health through different omics techniques. (marketsandmarkets.com)

Parents will then be asked about the impact of receiving genomic sequencing results and if the information was useful to them. (genome.gov)

A universal approach to compressing genomic data may not necessarily be optimal, as a particular method may be more suitable for specific purposes and aims. (wikipedia.org)

This enables comprehensive DNA profiling to be undertaken in the routine initial diagnostic workflow to link detected mutations to a broad range of potential genomic targeted therapies and immunotherapies, rather than wait to see if standard treatments fail to control the disease. (businesswire.com)
The study shows that semiconductor sequencing for actionable mutations can be used to identify a broad therapeutic armamentarium of targeted therapies and immunotherapies that can be potentially employed for the improved clinical management of glioblastoma patients. (businesswire.com)
In humans, for example, eye and hair color are the result of genetic variations that can arise from mutations. (indiatimes.com)
We both use DNA sequencing in our research to understand how mutations affect antibiotic resistance. (indiatimes.com)
Nevertheless, the scientists recommend checking future laboratory-confirmed human avian flu cases to see if any such mutations have occurred in the virus's hemagglutanin coating. (cosmosmagazine.com)
In turn, knowledge of those genetic sequences and mutations would give clinical laboratories the assays that help diagnosis, identify relevant therapies, and monitor a patient's progress. (darkdaily.com)
Furthermore, a limited number of genomic mutations likely account for the phenotypes of LVS-G and LVS-R. (fda.gov)

This research project will accelerate the use of genomics in pediatric medicine by creating and safely testing new methods for using information obtained from genomic sequencing in the care of newborns. (genome.gov)
Broad Genomics Platform sequences a whole human genome every four minutes. (broadinstitute.org)
In November 2022, Broad's Genomics Platform sequenced its 500,000th whole human genome, a mere four years after sequencing its 100,000th. (broadinstitute.org)
To guide implementation, it is important to assess the current landscape of human genomics work at CDC and ATSDR (Agency for Toxic Substances and Disease Registry). (cdc.gov)
Since 2011, OGPPH staff have assembled and curated an online, searchable database of CDC/ATSDR publications in human and pathogen genomics. (cdc.gov)
156 (9.9%) were identified as human genomics/genetics publications. (cdc.gov)
All human genomics/genetics articles were coded according to topic and phase of translational research . (cdc.gov)
Newborn Screening is perhaps the most classic example of established public health applications of human genomics in practice, and accordingly, this topic had the highest proportion (86%) of late-phase studies (T2-T4). (cdc.gov)

One of the earliest methods scientists used in the 1970s and 1980s was Sanger sequencing, which involves cutting up DNA into short fragments and adding radioactive or fluorescent tags to identify each nucleotide. (indiatimes.com)
Compared with newer methods, Sanger sequencing is slow and can process only relatively short stretches of DNA. (indiatimes.com)
Three children with compound heterozygous variants at GJB2 and PAH were confirmed by Sanger sequencing. (researchsquare.com)
The innovative system combines liquid-based sample preparation with downstream PCR detection of your region of interest using CRISPR-Q Custom PCR Assays and optional sequencing using CRISPR-Q Sanger Primers. (qiagen.com)
The CRISPR-Q Sanger Sequencing Analysis tool, which is available in GeneGlobe, enables quick and convenient analysis to complete the entire CRISPR editing detection workflow. (qiagen.com)
The result was thanks to years of work through the preferred " chain termination " (aka, Sanger Sequencing) method developed by Fred Sanger and a $2.7 billion contribution from the Human Genome Project , according to a study published in the African Journal of Laboratory Medicine ( AJLM ). (darkdaily.com)

However, most reports provide insufficient quality information to confirm the reliability of genomic testing owing to the complexity of the NGS process. (jmir.org)
HPC systems have increased the speed, accuracy, and reliability of genomic research by efficiently analyzing a large amount of sequencing data. (marketsandmarkets.com)

abstract = "The complete gene for human fatty acid ethyl ester Synthase-III (FAEES-III) was isolated from a human genomic lambda phage library for functional and structural determination. (elsevierpure.com)

A recent surge of interest in the development of novel algorithms and tools for storing and managing genomic re-sequencing data emphasizes the growing demand for efficient methods for genomic data compression. (wikipedia.org)
Different methods for identification of mutated genes, including Targeted Region Sequencing (TRS), ES and GS, is currently standard procedure in newborn children with a suspected disease. (researchsquare.com)
The researchers "applied new DNA sequencing technologies and sequence assembly methods, as well as knowledge gained from generating the first gapless sequences for the other 23 human chromosomes," SciTechDaily reported. (darkdaily.com)
The work presented in this thesis focuses on the bioinformatic methods for a TE-centric analysis of next- and third-generation sequencing technologies. (lu.se)
To circumvent these obstacles, we have developed two methods for the investigation of human neural cells in culture. (lu.se)
High-throughput methods for assessment of function are clearly required if this wealth of primary sequence information is to be used. (medscape.com)
His interests are in the development and use of molecular methods for pathogen discovery, human microbial ecology, genomewide host and microbial responses to infection, and Bordetella pathogenesis. (medscape.com)
Methods: S. mutans samples were isolated from the saliva of 30 children with varying histories of dental caries, and they were characterized according to morphological and biochemical markers and the sequences of their 16S-23S intergenic spacer region. (bvsalud.org)

The awards will fund studies on the potential for genome and exome sequencing to expand and improve newborn health care. (genome.gov)
The NSIGHT initiative (NIH) 2012-2018 ( https://www.genome.gov/Funded-Programs-Projects/Newborn-Sequencing-in-Genomic-Medicine-and-Public-Health-NSIGHT ), aimed at large scale Newborn Sequencing in Genomic Medicine and Public Health using exome sequencing (ES), or genomic sequencing (GS). (researchsquare.com)
TCap is a technique that hybridizes exome baits to cDNA library preparations to better facilitate RNA-sequencing in low-input or poor quality (degraded) samples. (github.io)

High-throughput sequencing technologies have led to a dramatic decline of genome sequencing costs and to an astonishingly rapid accumulation of genomic data. (wikipedia.org)
The storage and transfer of the tremendous amount of genomic data have become a mainstream problem, motivating the development of high-performance compression tools designed specifically for genomic data. (wikipedia.org)
While standard data compression tools (e.g., zip and rar) are being used to compress sequence data (e.g. (wikipedia.org)
Additionally, the statistical and information-theoretic properties of genomic sequences can potentially be exploited for compressing sequencing data. (wikipedia.org)
Encoding designs, such as the Golomb code and the Huffman code, have been incorporated into genomic data compression tools. (wikipedia.org)
Choosing a consensus reference sequence over a more specific reference sequence (e.g., the revised Cambridge Reference Sequence) can result in higher compression ratio because the consensus reference may contain less bias in its data. (wikipedia.org)
2009) alluded to the potential use of ethnic group-specific reference sequence templates, using the compression of mitochondrial DNA variant data as an example (see Figure 2). (wikipedia.org)
Their result suggests that the revised Cambridge Reference Sequence may not always be optimal because a greater number of variants need to be stored when it is used against data from ethnically distant individuals. (wikipedia.org)
Variable codes, such as the Huffman code, provide a more general entropy encoding scheme when the underlying variant and/or coordinate distribution is not well-defined (this is typically the case in genomic sequence data). (wikipedia.org)
It will test a new approach to newborn screening, in which genomic data are available as a resource for parents and doctors throughout infancy and childhood to inform health care. (genome.gov)
We identify promiscuous HLA-I and HLA-II epitopes in both proteomes and discuss the possible implications of introgression and population genomic data for public health and vaccine candidate prioritization. (broadinstitute.org)
This study highlights the importance of population genomic data for detecting subtle but potentially important phenomena such as introgression. (broadinstitute.org)
Despite these limitations, it provides highly accurate data, and some researchers are still actively using this method to sequence SARS-CoV-2 samples. (indiatimes.com)
What should happen with the (raw) sequencing data afterwards? (nature.com)
The supported projects were related both to data collection, identification of specific disorders and ethical, legal and social implications of genomic sequencing of newborns. (researchsquare.com)
Sequence data exists only for the exons and the first introns, while the structure of the gene has been well characterized. (kzoo.edu)
This project began to uncover the sequence data 5' and 3' to the gene along with that of the introns to lay the foundation for further studies of the regulatory sites and controls of the gene. (kzoo.edu)
A fingerprint digest was also performed, and together with the sequence data and restriction data, allowed for the improvement of a previously made map covering the region 5' and 3' to the gene as well as the 45kb region covering the human lysyl oxidase gene. (kzoo.edu)
We provide a simpler and much faster method with very reasonable sensitivity and precision, which can be applied without special adaptation to the prediction of both animal and plant pre-miRNAs, using as input either genomic sequences or sRNA-seq data. (biomedcentral.com)
Ochman's team compared the bacterial species by analyzing their genomic sequence data. (eurekalert.org)
He has been working on development and support of pipelines for processing and analyzing genome sequencing data for thousands of samples on JCVI High-throughput compute facility and AWS cloud. (jcvi.org)
He is managing hundreds of terabytes of sequencing and analysis data, and he is helping JCVI Faculty and external collaborators with novel tools development and analysis for web technologies, database development, data mining, data visualization, machine learning, annotation. (jcvi.org)
The significance of our work is that through what we are doing, we have put Africa on the map, by contributing knowledge and information to global sequencing data repositories. (nih.gov)
For the legitimacy of clinical NGS genomic testing, quality information from the process of producing genomic data should be included within the results. (jmir.org)
We defined data elements for the exchange of quality information from clinical NGS genomic tests, and profiled a FHIR genomic resource to enable information exchange in a standardized format. (jmir.org)
Approximately 1000 experimental data entries collected from the targeted sequencing pipeline CancerSCAN designed by Samsung Medical Center were used to validate implementation of the NGS-QR app using real-world data. (jmir.org)
As the demand for NGS genomic testing in clinical settings increases and genomic data accumulate, quality information can be used as reference material to improve the quality of testing. (jmir.org)
This app could also motivate laboratories to perform diagnostic tests to provide high-quality genomic data. (jmir.org)
The NGS genomic testing reports provide information regarding genomic variations and related data. (jmir.org)
In spite of the challenges faced by countries, including COVID-19 and political instability, country achievements included Lebanon, Syria and Somalia establishing and activating surveillance systems, and Sudan sharing viruses and genomic epidemiological data, for the first time, through the Global Influenza Surveillance and Response System (GISRS). (who.int)
This study focuses on two subjects: the divergences between human and the great apes, and an in-depth research of the divergence between human and chimpanzee using a relatively large data set. (ncl.edu.tw)
These estimates, which were confirmed by additional data from GenBank, are substantially lower than previous ones, which included repetitive sequences and might have been based on less accurate sequence data. (ncl.edu.tw)
Sequence data were analyzed for lineage distribution, pathogenicity-related genomic features, and mobile genetic elements. (cdc.gov)
DNA microarrays exploit primary sequence data to measure transcript levels and detect sequence polymorphisms, for every gene, simultaneously. (medscape.com)
Genomic sequencing will provide the data needed to unravel the complexities of the host-pathogen interaction. (medscape.com)

Teams of researchers will work to further the understanding of disorders that appear in newborns and to improve treatments for these diseases using genomic information. (genome.gov)
Researchers will try to determine if the parents respond to receiving the genomic sequencing results differently if their newborns are sick and if they respond differently to receiving genomic sequencing results as compared to current newborn screening results. (genome.gov)
Investigators will also develop a process for reporting results of genomic sequencing to the newborns' doctors and investigate how they act on these results. (genome.gov)
Given the severity of illness, these newborns may have the most to gain from fast genetic diagnosis through the use of genomic sequencing. (genome.gov)
The aim of this study is to investigate potentially curable or treatable medical conditions in unselected newborns using genomic sequencing(GS). (researchsquare.com)
Our study is the largest to date using GS to sequence unselected newborns. (researchsquare.com)
However, sequencing of apparently healthy newborns remains controversial as it may violate the Wilson and Jungner criteria. (researchsquare.com)
Screening newborns through genomic sequencing revealed unknown cancer risks in the infants' parents. (medpagetoday.com)

For example, representing sequence variant bases in the format 'Position1Base1Position2Base2…', '123C125T130G' can be shortened to '0C2T5G', where the integers represent intervals between the variants. (wikipedia.org)
We administered a 100-item survey to 3037 individuals who consented to the Return of Actionable Variants Empirical study, a genomic medicine implementation study supported by the National Institutes of Health (USA) eMERGE consortium. (nih.gov)
We have previously investigated the pattern of genetic differentiation among human populations at 36.8 million genomic variants to identify sites in the genome showing high frequency differences. (ox.ac.uk)
Sequencing also has helped researchers identify variants that spread to new regions. (indiatimes.com)
When you find variation that you haven't seen before, the hope is always that those genomic variants will be important for understanding human health," said Adam Phillippy, PhD, a senior investigator and head of the Genome Informatics Section at the National Human Genome Research Institute, in a press release. (darkdaily.com)

Selection of a reference sequence for relative compression can affect compression performance. (wikipedia.org)
The authors found biased haplotype distribution in the mitochondrial DNA sequences of Africans, Asians, and Eurasians relative to the revised Cambridge Reference Sequence. (wikipedia.org)
Additionally, a reference sequence can be designed based on statistical properties or engineered to improve the compression ratio. (wikipedia.org)
The reference sequence was derived from Ensembl Human sequence AC116552.1.1.173980 . (lu.se)

Here we describe a test based on massively parallel DNA sequencing to characterize base substitutions, short insertions and deletions (indels), copy number alterations and selected fusions across 287 cancer-related genes from routine formalin-fixed and paraffin-embedded (FFPE) clinical specimens. (nih.gov)
Substantial resources have been devoted to policy evaluation of clinical genomic sequencing that hinge on the conceptualization and measurement of utility. (bcm.edu)
The goal of the proposed research is to develop a clinically relevant and ELSI-informed model to assess family-level impact of genomic sequencing in the context of pediatric clinical care. (bcm.edu)
This allows clinicians to sequence samples at point-of-care clinical and treatment facilities. (indiatimes.com)
The emergence of evidence-based genomic applications and lack of equity in their implementation in clinical and public health practice provided an important impetus for this initiative. (cdc.gov)
The goal of this study was to develop a Fast Healthcare Interoperability Resources (FHIR)-based web app, NGS Quality Reporting (NGS-QR), to report and manage the quality of the information obtained from clinical NGS genomic tests. (jmir.org)
This study successfully demonstrated how quality information of clinical NGS genomic testing can be exchanged in a standardized format. (jmir.org)
To implement clinical NGS applications, health care providers operate their own NGS laboratories or request genomic tests to external laboratories. (jmir.org)

The QIAprep& CRISPR Kit is an integral part or our QIAprep& CRISPR solutions workflow, which provides rapid and sensitive characterization of CRISPR-based genome editing events in adherent or suspension-cultured human, mouse or rat cells. (qiagen.com)
This study aimed to perform genomic characterization of Mycobacterium tuberculosis strains obtained from Kazakhstani patients with pre-extensively drug-resistant tuberculosis diagnosed in Kazakhstan. (bvsalud.org)

We hypothesize that the tetO gene and a phage were inserted into the chromosome after conjugation, leaving a remnant plasmid that was lost from isolates from company C. The emergence and rapid spread of a resistant clone of C. jejuni in New Zealand, coupled with evolutionary change in the accessory genome, demonstrate the need for ongoing Campylobacter surveillance among poultry and humans. (cdc.gov)
The gene for FAEES-III was localized to human chromosome 11 by hybridizing the genomic fragment Xh01 to Chinese hamster/human somatic cell hybrid panels. (elsevierpure.com)
We mapped a human deafness locus DFNB36 to chromosome 1p36.3 in two consanguineous families segregating recessively inherited deafness and vestibular areflexia. (bmj.com)
The human Y chromosome now has a full and complete sequence. (darkdaily.com)
After decades of attempts, genetic scientists led by the Telomere-to-Telomere Consortium -a team of researchers funded by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH)-have finally "generated the first truly complete sequence of a human Y chromosome," which is "the final human chromosome to be fully sequenced," of the 24 human chromosomes, SciTechDaily reported. (darkdaily.com)
The full Y chromosome sequence "fills in gaps across more than 50% of the Y chromosome's length, [and] uncovers important genomic features with implications for fertility, such as factors in sperm production," SciTechDaily noted. (darkdaily.com)
The researchers published their findings in the journal Nature titled, " The Complete Sequence of a Human Y Chromosome . (darkdaily.com)
Nevertheless, more than half of the Y chromosome sequence was still unknown until the new findings from the T2T study, SciTechDaily reported. (darkdaily.com)
It could have been very chaotic, but instead, nearly half of the chromosome is made of alternating blocks of two specific repeating sequences known as satellite DNA . (darkdaily.com)

The directionality of introgression is primarily from C. posadasii to C. immitis, and we find more than 800 genes exhibiting strong evidence of introgression in one or more sequenced isolates. (broadinstitute.org)
We performed PCR-based sequencing of one region exhibiting introgression in 40 C. immitis isolates to confirm and better define the extent of gene flow between the species. (broadinstitute.org)
Next, the isolates were differentiated by sequencing a specific region of the gene encoding the enzyme glucosyltransferase B ( gtfB ). (bvsalud.org)
By sequencing the 16S-23S intergenic region, it was found that all of the isolates belonged to the species S. mutans . (bvsalud.org)
Based on the genetic similarity of the isolates and pattern of amino acid variations identified by partial sequencing of the gtfB gene, base-pair changes were identified and correlated with different virulence patterns among the isolates. (bvsalud.org)

4 We screened the coding sequence of ESPN (GenBank accession number AL136880) by sequencing PCR amplified ESPN exons from genomic DNA of affected individuals in the two families. (bmj.com)

Influenza virus is a major respiratory pathogen that infects an average of 5−15% of the global population each year, with approximately 500 000 human deaths related to influenza annually. (who.int)
Complete genomic sequences of microbial pathogens and hosts offer sophisticated new strategies for studying host-pathogen interactions. (medscape.com)

Genomic imprinting is an epigenetic phenomenon that causes genes to be expressed or not, depending on whether they are inherited from the mother or the father. (wikipedia.org)
In 2014, there were about 150 imprinted genes known in mice and about half that in humans. (wikipedia.org)
As of 2019, 260 imprinted genes have been reported in mice and 228 in humans. (wikipedia.org)
It is now known that there are at least 80 imprinted genes in humans and mice, many of which are involved in embryonic and placental growth and development. (wikipedia.org)
Here, we present a phylogenomics-based approach for the identification of orthologous and paralogous genes in human, mouse, fly, and worm, which forms the foundation of the comparative analyses of the modENCODE and mouse ENCODE projects. (biorxiv.org)
Furthermore, we show that integration of two separate phylogenomic pipelines yields increased accuracy, suggesting that their sources of error are independent, and finally, we leverage the resulting annotation of homologous genes to study the functional impact of gene duplication and loss in the context of rich gene expression and functional genomic datasets of the modENCODE, mouse ENCODE, and human ENCODE projects. (biorxiv.org)
The very premise of using model organisms to inform human biology relies on the fact that many biological processes, and the underlying genomic elements that encode them, are frequently conserved across large evolutionary distances, especially for protein-coding genes. (biorxiv.org)
To inform each other and human, model organism studies require a complete map of functionally-equivalent genes and processes across species, in order to facilitate mapping of biological and experimental findings across species, but such maps are extremely difficult to obtain experimentally. (biorxiv.org)
The most rigorous and general method for creating a comparative genomic mapping of functionally-equivalent genes across species is through the use of phylogenetics to infer evolutionary relationships. (biorxiv.org)
For any given set of species, gene families are created by first identifying all the genes in all species and then clustering them based on their sequence similarities. (biorxiv.org)
The first draft contained an important finding: significantly fewer human genes than previously thought. (beckershospitalreview.com)
We developed TS-REX, a database/software system that supports the analysis of tissue and cell type-specific transcription factor-gene networks based on expressed sequence tag abundance of transcription factor-encoding genes in UniGene EST libraries. (lu.se)
TS-REX was applied to predict regulators of Polycomb group genes in six human tumor tissues and in human embryonic stem cells. (lu.se)
In addition, IGS sequencing (e.g., sequencing of intergenic regions between the 16S and 23S rRNA genes) has been used to taxonomy studies, while partial sequencing of the gene gtfB , which encodes the enzyme glucosyltransferase B, has been used to investigate enzymatic activity and virulence 11-12 . (bvsalud.org)

Researchers sequence DNA to determine the order of the four chemical building blocks, or nucleotides, that make it up: adenine, thymine, cytosine and guanine. (indiatimes.com)
Furthermore, using sequence analysis of human genomic DNA, researchers concluded that the amino acids important for catalysis by COX-1 are conserved and are equally important for catalysis by COX-2. (medscape.com)

Human diseases involving genomic imprinting include Angelman, Prader-Willi, and Beckwith-Wiedemann syndromes. (wikipedia.org)
WGA (complete sequence analysis) is also expected to play a role in healthcare, specifically in the diagnosis of diseases for which the genetic background is not yet (or insufficiently) clear. (nature.com)
The information obtained by this project is currently being used by the lab to sequence the whole region in hopes that this information will be used in the near future as a form of genetic therapy for fibrotic diseases and cancers. (kzoo.edu)
We have established sequencing facilities in Nigeria, Sierra-Leone, Senegal and Liberia that have been used to respond to many outbreaks of diseases such as Lassa fever, monkeypox and yellow fever. (nih.gov)

Awards of $5 million to four grantees have been made in fiscal year 2013 under the Genomic Sequencing and Newborn Screening Disorders research program. (genome.gov)
A genetic counselor will provide the genomic sequencing information and newborn screening results to the families. (genome.gov)
With increasing utility and decreasing cost of genomic sequencing, augmentation of standard newborn screening (NBS) programs with newborn genomic sequencing (nGS) has been proposed. (frontiersin.org)

and the ethical, legal and social implications of using genomic information in the newborn period. (genome.gov)

Population genomic sequencing of Coccidioides fungi reveals recent hybridization and transposon control. (broadinstitute.org)

Human genetics , 89 (3), 253-258. (elsevierpure.com)
In addition to her academic work, Dr. Mathews has spent time at the Genetics and Public Policy Center, the US Department of Health and Human Services, the Presidential Commission for the Study of Bioethical Issues, and the National Academy of Medicine working in various capacities on science policy. (hopkinsmedicine.org)

This analysis covers approximately 20% of the dystrophin-coding sequence. (elsevierpure.com)
Advances in genomic analysis have led to a clearer understanding of the COX pathway. (medscape.com)

Transposable elements (TEs) are mobile genetic sequences that comprise around 50% of our genomic DNA. (lu.se)

New human pathogens can emerge from the livestock-human interface and spread into human populations through many pathways including livestock products. (cdc.gov)

GenBank flat file database), this approach has been criticized to be extravagant because genomic sequences often contain repetitive content (e.g., microsatellite sequences) or many sequences exhibit high levels of similarity (e.g., multiple genome sequences from the same species). (wikipedia.org)

In 1977, the first complete genome of an organism was sequenced. (darkdaily.com)
Our work on Ebola gave us the confidence that we could sequence any organism, including the human genome. (nih.gov)

Amplification of specific sequences from human genomic DNA using LongAmp Taq DNA Polymerase. (neb.com)

Functional assays comparing elephant and human cells showed that in response to DNA damage, cells from elephants had higher cell death (apoptosis) rates but didn't boost DNA repair mechanisms. (nih.gov)

Forms of genomic imprinting have been demonstrated in fungi, plants and animals. (wikipedia.org)

Studying traces from humans who lived long ago reveals much about who we are and why the modern world looks the way it does. (technologyreview.com)

Our molecular testing capabilities now cover cancer screening, tumour DNA sequencing, Covid -19 mutation profiling and allergen testing, with over 5 million genetic health tests performed during the last two years. (businesswire.com)
However, to date, only a single human DMD case has been described where a point mutation, producing a stop codon, accounts for the DMD phenotype. (elsevierpure.com)

Overlapping restriction fragments made from previously obtained YAC clones were sequenced using both primers and nested deletion techniques. (kzoo.edu)

2 Occasionally these influenza viruses of avian lineage cross natural species barriers and infect other susceptible bird species and/or mammals including humans, pigs and horses. (who.int)

He has won numerous honors for his accomplishments, including the 2019 African Prize from the Human Genome Organization. (nih.gov)

Genomic sequencing helps detect all types of genetic variations across the entire genome. (marketsandmarkets.com)

Moreover, this study demonstrates an algorithm for large-scale sequence alignments that involve repetitive sequences. (ncl.edu.tw)

In addition to a TATA box at position -29 relative to the transcription initiation site and two Spl GGGCGG recognition sequences at nucleotide positions -42 to -37 and -50 to -45, the promoter contains a sequence motif matching the transcription activating factor AP-1. (elsevierpure.com)

A second experiment revealed the mutated protein was capable of latching onto human trachea tissue. (cosmosmagazine.com)
Our results establish espin as an essential protein for hearing and vestibular function in humans. (bmj.com)
We show that human and chimpanzee cells differentiate in a similar man¬ner and that the difference in interspecies protein abundance is higher than transcript-level differences, suggesting that post-transcriptional mechanisms play a role in the difference between human and chim¬panzee brain development. (lu.se)
After 4 weeks of conversion, we performed global analyses of RNA and protein levels by RNA-sequencing and mass spectrometry. (lu.se)

Oncologica is a world leading precision cancer medicine and genomic contract research laboratory based in Cambridge, UK. (businesswire.com)
The remainder were considered non-genomic precision health publications. (cdc.gov)

However, a newly published study from the research team at Oncologica the world-leading genetic cancer testing laboratory based in Cambridge UK, explains how their genetic sequencing research into predictive glioblastoma biomarkers can empower patients and doctors with DNA blueprints to make better targeted therapy decisions. (businesswire.com)
In Oncologica's newly published study Oncologica shows how semiconductor biomarker sequencing can be used to accurately screen the fragmented DNA and RNA from routine glioblastoma biopsy/resection samples. (businesswire.com)
An intriguing study surveying the transcriptome of murine brain tissues revealed over 1300 imprinted gene loci (approximately 10-fold more than previously reported) by RNA-sequencing from F1 hybrids resulting from reciprocal crosses. (wikipedia.org)
Studies in animals infected experimentally with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the cause of COVID-19, provide opportunities to study aspects of the disease that are not easily investigated in human patients. (nature.com)
The tools we use to sequence DNA in our work are the same ones scientists are using right now to study the SARS-CoV-2 virus. (indiatimes.com)
This study differs from previous ones in that it demonstrates an approach to efficiently obtain authentic genomic divergences without sacrificing accuracy or reliability. (ncl.edu.tw)
To study the genomic divergences among hominoids and to estimate the effective population size of the common ancestor of human and chimpanzee we selected 53 autosomal intergenic noncoding DNA segments from the human genome and sequenced them in a human, chimpanzee, gorilla, and orangutan. (ncl.edu.tw)
Furthermore, a recent study showed that SARS-CoV-2 RNA can be reverse-transcribed and in-tegrated into the genome of human cells. (lu.se)
In this study, we investigated the effect of BNT162b2 on the human liver cell line Huh7 in vitro. (lu.se)

Scientists are genetically engineering pigs whose organs could be transplanted into humans and 3D-printing lungs using a patient's own cells. (technologyreview.com)

The average sequence divergence was only 1.24% ± 0.07% for the human-chimpanzee pair, 1.62% ± 0.08% for the human-gorilla pair, and 1.63% ± 0.08% for the chimpanzee-gorilla pair. (ncl.edu.tw)

The application of different types of encoding schemes have been explored to encode variant bases and genomic coordinates. (wikipedia.org)

The International Human Genome Sequencing Consortium published the first draft of the human genome in February 2001. (beckershospitalreview.com)

To understand the cause(s) of this morbidity and mortality better, we assessed the tissue distribution of infectious virus and viral genomic RNA at 2, 4 and 6 days post infection (dpi) in mice receiving 10 5 PFU of SARS-CoV-2. (nature.com)
Members of the human herpesvirus (HHV) and human papillomavirus (HPV) families cause the most common primary viral infections of the oral cavity. (medscape.com)
Nonetheless, many other viral infections can affect the oral cavity in humans, either as localized or systemic infections. (medscape.com)

t https://unctad.org/system/files/official- document/aldcmisc2020d3_en.pdf. (who.int)

The results indicate that the genomic sequence of ATCC LVS is nearly identical to that of the human LVS vaccine. (fda.gov)
Our results indicate a fast up-take of BNT162b2 into human liver cell line Huh7, leading to changes in LINE-1 expression and distribution. (lu.se)

The following sections contain reference sequences that belong to a specific genome build. (nih.gov)
Each has a specific amino acid sequence that allows it to bind to receptors on particular types of cells. (cosmosmagazine.com)

In diploid organisms (like humans), the somatic cells possess two copies of the genome, one inherited from the father and one from the mother. (wikipedia.org)

Firstly, we present a robust 2-week protocol for the differentiation of human pluripotent stem cells (PSCs) into forebrain neural progenitor cells. (lu.se)

Pilot projects to examine this important question are being funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI), both parts of the National Institutes of Health. (genome.gov)
Participation is voluntary for those research studies that involve returning results of DNA sequencing to families and physicians, and requires that families provide informed consent. (genome.gov)
Thus began the commencement of sequencing technology research. (darkdaily.com)
His first NIH grant was a Fogarty International Research Collaboration Award (FIRCA) and he is now a Principal Investigator on the NIH's Human Heredity and Health in Africa (H3Africa) project. (nih.gov)
Together, our observations suggest impact of occupational contact with livestock on nasal S. aureus colonization and highlight the need for further research on the complex epidemiology of S. aureus at the livestock-human interface. (cdc.gov)
More so, TEs are a rich source of genetic variation, which makes them an intriguing research avenue to investigate humanspecific traits, including their impact on human brain evolution and their relevance in disease. (lu.se)

They discovered several different combinations of three amino acid changes that altered the hemagglutanin's specificity from bird to human cells. (cosmosmagazine.com)

The report details how support under the PIP Framework Partnership Contribution in 2020-2021 supported countries in strengthening laboratory training and pandemic preparedness planning, conducting pandemic influenza severity assessment and improving outbreak detection and response, in addition to conducting joint investigations and risk assessments to strengthen the human-animal interface. (who.int)

We are at a point now where powerful new genome sequencing technologies are making it faster and more affordable than ever to access genomic information about patients," said Eric D. Green, M.D., Ph.D., director of NHGRI. (genome.gov)
Known as NGS, these technologies are able to process much higher volumes of DNA at the same time, significantly reducing the amount of time it takes to sequence a genome. (indiatimes.com)
Third-generation technologies like the Nanopore MinIon directly sequence DNA by passing the entire DNA molecule through an electrical pore in the sequencer. (indiatimes.com)

Anatomy26

Organisms29

Diseases4

Chemicals and Drugs42

Analytical, Diagnostic and Therapeutic Techniques and Equipment35

Phenomena and Processes137

Disciplines and Occupations3

Technology, Industry, Agriculture2

Information Science18

Health Care5

Whole genome10

Genomes16

Next Generation Sequencing7

Impact of receivi1

Compressing genomic data1

Mutations7

Genomics8

Sanger6

Reliability of genomic2

Abstract1

Methods8

Exome3

Data35

Newborns8

Variants5

Reference sequence4

Clinical8

Characterization2

Chromosome9

Isolates5

Exons1

Pathogen2

Genes14

Researchers2

Diseases4

Newborn Screening3

Implications1

Hybridization1

Genetics2

Analysis2

Genetic sequences1

Pathogens1

GenBank1

Organism2

Amplification1

Assays1

Fungi1

Reveals1

Mutation2

Primers1

Species1

Organization1

Variations1

Repetitive1

Nucleotide1

Protein4

Precision2

Study9

Scientists1

Divergence1

Bases1

Consortium1

Viral3

Https1

Results indicate2

Specific2

Somatic1

Differentiation1

Research6

Amino1

20211

Technologies3