Genomic sequences. Medical search. Frequent questions

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

Illumina sequencing reads were quality filtered to remove adaptors and low-quality bases using BBTools (https://jgi.doe.gov/data-and-tools/bbtools). (cdc.gov)
Long read sequencing technologies haven't pushed aside short read sequencing or Illumina, the largest company in the field, as some predicted back then, but they are now being applied to a wider range of research applications. (jax.org)
For example, the Illumina NovaSeq can sequence roughly 150 billion nucleotides, the equivalent of 48 human genomes, in just three days. (indiatimes.com)
As a dedicated innovator of tools and solutions for genomics applications,Integrated DNA Technologies (IDT) introduces its unique, rhAmpSeq™ targeted sequencing system - providing researchers with highly accurate, cost-effective and easy-to-use amplicon sequencing on Illumina®next-generation sequencing (NGS) platforms. (labbulletin.com)
The aim of this study was to determine whether Nanopore sequencing data can provide equivalent information to Illumina for transmission clustering and genotypic DST for M tuberculosis. (ox.ac.uk)
In this genomic analysis, we analysed 151 M tuberculosis isolates from Madagascar, South Africa, and England, which were collected between 2011 and 2018, using phenotypic DST and matched Illumina and Nanopore data. (ox.ac.uk)
Illumina sequencing was done with the MiSeq, HiSeq 2500, or NextSeq500 platforms and Nanopore sequencing was done on the MinION or GridION platforms. (ox.ac.uk)
As we are using Illumina sequencing platforms, we provide some general information below. (lu.se)

The awards will fund studies on the potential for genome and exome sequencing to expand and improve newborn health care. (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)
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)
Data from SNP array and whole exome sequencing revealed that individuals with autism had a higher burden of rare exonic copy-number variants altering autism associated genes (deletions ( p = 0.0352) or duplications ( p = 0.0352)), higher inbreeding status ( p = 0.023) and a higher load of rare homozygous deleterious variants ( p = 0.011) compared to controls. (nature.com)
The Clinical Sequencing Evidence-Generating Research (CSER) consortium, now in its second funding cycle, is investigating the effectiveness of integrating genomic (exome or genome) sequencing into the clinical care of diverse and medically underserved individuals in a variety of healthcare settings and disease states. (elsevierpure.com)

However, most evaluations fail to capture the full utility of genomic sequencing because they do not account for impact on family members. (bcm.edu)
Goals of the consortium include assessing the clinical utility of genomic sequencing, exploring medical follow up and cascade testing of relatives, and evaluating patient-provider-laboratory level interactions that influence the use of this technology. (elsevierpure.com)

Finally, these DNA fragments are fed into a computer and reassembled into the entire genomic sequence. (indiatimes.com)
Whole- genome sequencing (WGS) is an approach for studying and analysing the entire genomic sequence of pathogens. (bvsalud.org)

The T2T (telomere-to-telomere) consortium announced in late March 2022 that it had generated the first complete, gapless sequence of a human genome. (jax.org)
The first "complete" human genome sequence was actually complete only in terms of what researchers could achieve with the technology available at that time. (jax.org)
To date, human genome sequences have been reported for individuals with ancestry in three distinct geographical regions: a Yoruba African, two individuals of northwest European origin, and a person from China1, 2, 3, 4. (blogspot.com)
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)
The completion of the first human genome drafts (Yamey 2000 ) was just a start of the modern DNA sequencing era which resulted in further invention, improved development toward new advanced strategies of high-throughput DNA sequencing, so called the " high-throughput next generation sequencing " (HT-NGS). (springer.com)
Year 2011 is celebrated as the 10th anniversary since the human genome was first sequenced ( www.nature.com/natureconferences/hg10years/index.html ). (springer.com)
During this period, tremendous success has been achieved in the fields of decoding of human genome, technological advancement of new era of human genome applications, toward personalized genomes and discovery of rare variants, leveraging genome sequencing to impact on cancer researches and mammalian evolution and population structure. (springer.com)
See how the University of Washington used HiFi sequencing to uncover a key finding about ALS and the human genome. (pacb.com)

Even the best short read whole genome sequences aren't whole. (jax.org)
The integration of several human whole-genome sequences derived from several ethnic groups will assist in understanding genetic ancestry, migration patterns and population bottlenecks. (blogspot.com)
Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences. (ox.ac.uk)

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)
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)
Single-molecule reads that span the entire genome can capture species without an existing reference sequence as well as detect variants within a particular species. (jax.org)
Sequencing also has helped researchers identify variants that spread to new regions. (indiatimes.com)
Three children with compound heterozygous variants at GJB2 and PAH were confirmed by Sanger sequencing. (researchsquare.com)
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)
BANDAR SERI BEGAWAN - Brunei can now detect and track COVID-19 variants circulating in the country as the health ministry has started sequencing the genome of coronavirus samples. (thescoop.co)
Identifying COVID variants in Brunei was made possible after a Beijing-based equity firm donated a genome sequencing machine to the health ministry in August. (thescoop.co)
Experts said inadequate genomic sequencing meant that dangerous variants may go undetected and make it more difficult for countries to control future COVID waves. (thescoop.co)
The sequencing information, later as the pandemic evolved, became essential for informing public health policies through monitoring and characterization of SARS-CoV-2 variants. (bvsalud.org)

Complete genome sequence and genomic characterization of Microcystis panniformis FACHB 1757 by third-generation sequencing. (pacb.com)

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)

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)
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)
Bethesda, Md. , Wed., Sept. 4, 2013 - Can sequencing of newborns' genomes provide useful medical information beyond what current newborn screening already provides? (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)
With the ongoing developments of high throughput sequencing machines and advancement of modern bioinformatics tools at unprecedented pace, the target goal of sequencing individual genomes of living organism at a cost of $1,000 each is seemed to be realistically feasible in the near future. (springer.com)
Our revolutionary sequencing technologies combine the completeness of long reads with the accuracy of short reads to provide the most comprehensive view of genomes, transcriptomes, and epigenomes. (pacb.com)

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

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)
Relatively fast, inexpensive and accurate, short read sequencing (technically known as high throughput massively parallel sequencing) requires breaking the genome into millions of short-250 bases, plus or minus-segments for sequencing and then reassembling them to generate the full sequence. (jax.org)
The recent development of high-throughput, "deep" sequencing has allowed discovery of novel translocations leading to a rapid increase in understanding these diseases. (mayoclinic.org)
The high-throughput - next generation sequencing (HT-NGS) technologies are currently the hottest topic in the field of human and animals genomics researches, which can produce over 100 times more data compared to the most sophisticated capillary sequencers based on the Sanger method. (springer.com)
So far, we have not ventured into ultra high-throughput sequencing, for two main reasons. (genomeweb.com)

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)
Chinese and Russian scientists will carry out the Real-Time PCR detection of SARS-CoV-2 in biological material (nasopharyngeal swabs) from patients with symptoms of respiratory diseases and investigate the genomic variability, comparative genomics and phylogenetic analysis. (dst.gov.in)
IDT has developed proprietary technologies for genomics applications such as next generation sequencing, CRISPR genome editing, qPCR, and RNA interference. (labbulletin.com)
We work primarily with natural host-parasite systems, with focus on avian malaria, using a variety of methods ranging from single gene barcoding to genomics and dual-RNA sequencing. (lu.se)

The training focused on utilizing the Oxford Nanopore Technology sequencing - a platform for metagenomic sequencing of acute watery diarrhoea. (who.int)
The genomic, metagenomic and epidemiological data from India, China, Russia and Brazil will be integrated to develop mathematical models for mutations analysis, population genetics, phylogenetic relationship, recombination analysis and risk evaluation to reveal spread network and dynamics of the virus. (dst.gov.in)

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)
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)
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)
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)
Since 2014, the NIRCs and CDC combined have provided sequencing data on nearly 60,000 influenza viruses and made that data public to better inform influenza detection, prevention, and control efforts globally. (cdc.gov)
Sequence data have been deposited in GISAID. (cdc.gov)
These include previously unknown sequence data, a collection of expressed genes, molecular markers, and a DNA microarray that can be used to study aphid gene expression. (nih.gov)
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)
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)
Genetic data from participants will also be used to create a genomic registry meant to support research for many years. (mayo.edu)
This document specifies the minimum requirements for generating and analysing whole genome sequencing (WGS) data of bacteria obtained from the food chain. (iso.org)
We have developed periscope, a tool for the detection and quantification of sub-genomic RNA (sgRNA) in ARTIC network protocol generated nanopore SARS-CoV-2 genomic sequence data. (nanoporetech.com)
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)
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)
You will be asked to provide a SampleSheet compatible with the requested sequencer that will allow demultiplexing of the sequencing data (FASTQ files). (lu.se)

abstract = "Splicing is a biological phenomenon that removes the non-coding sequence from the transcripts to produce a mature transcript suitable for translation. (edu.au)
Novel TRAF1-ALK fusion identified by deep RNA sequencing of anaplastic large cell lymphoma Abstract Chromosomal translocations leading to expression of abnormal fusion proteins play a major role in the pathogenesis of various hematologic malignancies. (mayoclinic.org)

Indian Scientists, in partnership with Scientists from China, Russia and Brazil, will carry out genomic sequencing of SARS-CoV-2 and studies on the epidemiology and mathematical modelling of the COVID-19 pandemic. (dst.gov.in)
Genomic sequencing for epidemic and pandemic preparedness and response: EMRO's vision and strategic interventions. (bvsalud.org)
In January 2020, scientists used next-generation sequencing (NGS) as one of several sequencing technologies to study severe acute respiratory syndrome coronavirus 2 ( SARS-CoV-2 ) and to reveal the first genetic makeup of this new virus only 11 days after the first cluster of cases due to the COVID-19 pandemic was reported. (bvsalud.org)

An amplicon- based sequencing framework for accurately measuring intrahost virus diversity using PrimalSeq and iVar. (cdc.gov)
Multiplexed PCR amplicon sequencing (AmpSeq) is an increasingly popular application for cost-effective monitoring of threatened species and managed wildlife populations, and shows strong potential for the genomic epidemiology of infectious disease. (nih.gov)
There has been a real need for a high-performance amplicon sequencing system and we're delighted to bring it to the market after several years of development. (labbulletin.com)
We are able to develop complete assays from scratch, so customers can come to us and say, 'we want targeted resequencing done on gene X', and we develop everything necessary, either using amplicon enrichment or in-solution enrichment, for example the Agilent SureSelect system, and then we perform the sequencing. (genomeweb.com)

Comparison with strains of M. aeruginosa and some other water bloom-forming cyanobacterial species revealed large-scale structure rearrangement and length variation at the genome level along with 36 genomic islands annotated genome-wide, which demonstrates high plasticity of the M. panniformis FACHB1757 genome and reveals that Microcystis has a flexible genome evolution. (pacb.com)

We both use DNA sequencing in our research to understand how mutations affect antibiotic resistance. (indiatimes.com)
The authors of a chapter in the 2020 ASCO Educational Book present the basics of the known genomic alterations in metastatic breast cancer, describe various methods of clinical detection, and then provide basic guidance on the interpretation and clinical applicability of these mutations. (medpagetoday.com)
Another important aspect of this manuscript is Table 1 , where the authors clearly show the presence of mutations not only in the primary and metastatic setting but also highlight that some of these genomic pathway alterations are preserved across breast cancer subtypes. (medpagetoday.com)
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)
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)
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)
A whole-genome sequencing is required for identification of genetic mutations and recombinations of the virus, while epidemiological studies can help assess its distribution. (dst.gov.in)
Positive coronavirus samples are ready to be prepared in an ice bucket to get sequenced and analysed for coronavirus mutations at the Bioscientia laboratories in Ingelheim, Germany on January 27, 2021. (thescoop.co)

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)
However, Nanopore sequences smaller volumes of DNA compared with other NGS platforms. (indiatimes.com)
Nanopore sequencing offers advantages in all areas of research. (nanoporetech.com)
Evaluation of Nanopore sequencing for Mycobacterium tuberculosis drug susceptibility testing and outbreak investigation: a genomic analysis. (ox.ac.uk)

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)

Detection of CNVs has been limited, in part due to the significant costs associated with both chromosomal microarray analyses (CMA) and whole-genome sequencing (WGS). (sfari.org)
Whole-genome sequencing (WGS) analyses of this tumor type are limited, and we therefore interrogated eight ATCs using WGS and RNA sequencing. (lu.se)

The company, which has about 15 employees but shares additional staff members and resources with its parent firm, currently offers a variety of genomic services, including next-generation sequencing on the Roche/454 GS FLX and GS Junior platforms. (genomeweb.com)
What kinds of next-gen sequencing services do you offer, and on what platforms? (genomeweb.com)

A genetic counselor will provide the genomic sequencing information and newborn screening results to the families. (genome.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)
Nearly 10 percent of the genome, including highly repetitive sequences at the ends (telomeres) and middles (centromeres) of chromosomes, remained inaccessible. (jax.org)

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)
and the ethical, legal and social implications of using genomic information in the newborn period. (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)
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)
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 authors found biased haplotype distribution in the mitochondrial DNA sequences of Africans, Asians, and Eurasians relative to the revised Cambridge Reference Sequence. (wikipedia.org)

The whole genome was sequenced using PacBio RS II sequencer with 48-fold coverage. (pacb.com)

Sequencing Only project only includes time on the requested sequencer, requested sequencing reagents and hands-on time from CTG staff for operating the instrument. (lu.se)

SFARI Investigator Michael Wigler and his colleague Dan Levy at Cold Spring Harbor Laboratory in New York have developed a new fragmentation and sequencing method for CNV analysis called SMASH (Short Multiply Aggregated Sequence Homologies). (sfari.org)
SMASH, a fragmentation and sequencing method for genomic copy number analysis. (sfari.org)
BitesizeBio.com has published a new article entitled "Extract HMW DNA for Long-Range Genomic Analysis with the New SageHLS Platform", which sheds light on the most important aspects of extracting high molecular weight DNA for sequencing. (prsync.com)
This automated sample prep device produces ultra-long DNA fragments to enable long-range genomic analysis. (prsync.com)
Our offering includes DNA sequencing, as well as RNA and gene expression analysis and future technology for analysing proteins. (nanoporetech.com)
This tool can be applied to many sequences worldwide to provide the most comprehensive analysis of SARS-CoV-2 sgRNA to date. (nanoporetech.com)
For the future direction, we need the in-depth genome sequence information and analysis for most of the mammals, including human to fully understand genome variation of economic traits, genetic susceptibility to diseases, and pharmacogenomics of drug response. (springer.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)

However, despite the significant damage inflicted by M. persicae in agricultural systems through direct feeding damage and by its ability to transmit plant viruses, limited genomic information is available for this species. (nih.gov)
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)
ITS sequencing results in the detection of many fungal species that are either not detected or difficult to identify to species level using culture or microscopy. (cdc.gov)

The genome of AK1 was determined by an exacting, combined approach that included whole-genome shotgun sequencing (27.8times coverage), targeted bacterial artificial chromosome sequencing, and high-resolution comparative genomic hybridization using custom microarrays featuring more than 24 million probes. (blogspot.com)
Each participant's microbiome was assessed with genomic sequencing with sequences aligned to a bacterial database. (medscape.com)

To study this phenomenon, information on the intron-exon arrangement of a gene is essential, usually obtained by aligning mRNA/EST sequences to their cognate genomic sequences. (edu.au)

It's therefore fitting that researchers leading the long read innovation charge at institutions around the country came to JAX for its recent long read sequencing workshop , including some of the leaders of the T2T effort. (jax.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)
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)
IDT's mission and long-standing tradition is to enable researchers to have greater access to high-quality, budget-friendly genomic tools that provide differentiated results. (labbulletin.com)
Genetic sequencing also allows researchers to study prolonged outbreaks, map coronavirus clusters and understand how viral strains spread . (thescoop.co)

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)

Using a simple local alignment to detect reads which contain the leader sequence, we were able to identify and quantify reads arising from canonical and non-canonical sgRNA. (nanoporetech.com)

Future research will focus on exploiting these known genomic alterations through the generation of new therapies and/or with the identification of the optimal sequencing of agents. (medpagetoday.com)
Oncologica's comprehensive NGS DNA profiling with linkage to targeted therapies provides detailed genomic blueprints that optimize therapy choices, improve health outcomes and help people avoid treatment unlikely to be of benefit. (businesswire.com)

The image below depicts the norovirus genomic structure and capsid domains. (medscape.com)
The norovirus genomic structure and capsid domains. (medscape.com)

COVID-19 Combo Kit, Applied Biosystems, https://www.thermofisher.com) were randomly selected for next-generation sequencing ( 1 ). (cdc.gov)
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)
The health ministry began genomic sequencing at the end of November and planned to analyse 40 COVID test samples a week in the early stage of operations before increasing the number of specimens when the workflow has been optimised. (thescoop.co)
The World Health Organization said genomic surveillance plays a critical role in combating COVID as it helps countries to prepare for potential surge in cases as well as make quick and informed public health decisions. (thescoop.co)

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)

2: new models and efficient methods for phylogenetic inference in the genomic era. (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)
The findings from the CSER consortium will offer patients, healthcare systems, and policymakers a clearer understanding of the opportunities and challenges of providing genomic medicine in diverse populations and settings, and contribute evidence toward developing best practices for the delivery of clinically useful and cost-effective genomic sequencing in diverse healthcare settings. (elsevierpure.com)

The tool works with standard single letter nucleotide or protein codes including ambiguities and can match Prosite patterns in protein sequences. (nih.gov)

Previously, Brunei had to send coronavirus samples to Singapore and Hong Kong for genetic sequencing and results were only available after a few weeks. (thescoop.co)
The machine was said to sequence up to 96 coronavirus test samples at the same time and results can be expected within two days. (thescoop.co)

Find regions of similarity between this sequence and other sequences using BLAST. (nih.gov)
Sequence similarity networks of prokaryotic virus DJR MCP. (biomedcentral.com)
Protein sequences were clustered by the pairwise sequence similarity using CLANS. (biomedcentral.com)

At least 60% of participants will be of non-European ancestry or from underserved settings, with the goal of diversifying the populations that are providing an evidence base for genomic medicine. (elsevierpure.com)
CSER consortium 2018, ' The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations ', American Journal of Human Genetics , vol. 103, no. 3, pp. 319-327. (elsevierpure.com)

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)
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)
Recent advances in sequencing technologies have initiated an era of personal genome sequences. (blogspot.com)

This protocol details an approach for determining fungal diversity within air samples through genomic DNA extraction, amplification, sequencing, and taxonomic identification of fungal internal transcribed spacer (ITS) regions. (cdc.gov)

Selection of a reference sequence for relative compression can affect compression performance. (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 AC007637.9.1.175870 . (lu.se)

Each NIRC sequences nearly 1,000 influenza viruses per flu season and conducts viral isolation of those viruses to assist CDC in assessing vaccine relatedness and antiviral effectiveness. (cdc.gov)
Finally, we describe an R package (paneljudge) that facilitates the design and comparative evaluation of genetic panels for relatedness estimation, and we provide general guidance on the design and implementation of AmpSeq panels for the genomic epidemiology of infectious disease. (nih.gov)

The Jackson Laboratory (JAX) has considerable expertise in long read sequencing, and many faculty members rely on it for their research. (jax.org)
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)
Oncologica is a world leading precision cancer medicine and genomic contract research laboratory based in Cambridge, UK. (businesswire.com)

Long read sequencing has long been important for sequencing microbes. (jax.org)

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)
Here we provide a highly annotated, whole-genome sequence for a Korean individual, known as AK1. (blogspot.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)
What genomic services does IMGM Laboratories provide? (genomeweb.com)

Through a cooperative agreement with the Association for Public Health Laboratories , CDC provides funding, as well as extensive training, to a network of state labs for them to do influenza sequencing. (cdc.gov)
To implement clinical NGS applications, health care providers operate their own NGS laboratories or request genomic tests to external laboratories. (jmir.org)
In Sequence recently visited IMGM Laboratories, which shares a building with its parent company in Martinsried, and spoke with Ralph Oehlmann, the firm's director of business development. (genomeweb.com)

Genomic Sequencing: Who Controls The Information Your Genes Contain? (medicaldaily.com)

Optimal pool loading concentration depends on the library type, insert size and is specific to the sequencing machine and kit. (lu.se)

Beginning in 2021, CDC and APHL piloted the Influenza Sequencing Center (ISC) program and, as of 2024, supported six ISCs. (cdc.gov)
4 ). Sequence alignments were performed with MAFFT version 7.471 ( 5 ) and variant calling using Geneious Prime version 2021 (https://www.geneious.com). (cdc.gov)
The genome sequencing machine donated by IDG Capital to Ministry of Health on Aug 26,2021. (thescoop.co)

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)

Anatomy13

Organisms36

Diseases6

Chemicals and Drugs34

Analytical, Diagnostic and Therapeutic Techniques and Equipment35

Phenomena and Processes144

Disciplines and Occupations3

Anthropology, Education, Sociology and Social Phenomena1

Technology, Industry, Agriculture2

Information Science20

Health Care6

Geographicals1

Impact of receivi1

Illumina8

Exome5

Utility of genomic2

Entire genomic sequence2

Human genome9

Whole genome sequences3

Variants10

Characterization1

Compressing genomic data1

Genomes9

Population genomic3

High throughput5

Genomics4

Metagenomic2

Data24

Abstract2

Pandemic3

Amplicon4

Genome-wide1

Mutations8

Nanopore4

Sanger2

Analyses2

Platforms2

Genetic counselor1

Repetitive2

Newborn5

Mitochondrial1

PacBio1

Reagents1

Analysis8

Species3

Bacterial2

Gene1

Researchers5

Isolates1

Reads1

Therapies2

Capsid2

Covid4

Newborns5

Methods1

Healthcare2

Nucleotide1

Coronavirus2

Similarity3

Populations2

Technologies3

Diversity1

Reference sequence3

Relatedness2

Laboratory3

Microbes1

Provide4

Laboratories3

Genes1

Optimal1

20213

Clinical care1