Human genomic. Medical search. Frequent questions

Researchers create reference human genome sequences to help detect genomic variants in each sequenced human genome. (genome.gov)
A short, fossilized femur from a 38-year-old Neandertal, which sat untouched in a museum in Zagreb, Croatia, could lead to the first full genome sequence of Homo sapiens 's closest relative and help scientists understand what is special about humans, say teams that published analyses of two partial sequences of Neandertal DNA in this week's issues of Science and Nature . (scientificamerican.com)
Rubin's used a metagenomic approach, incorporating fragments of Neandertal DNA into loops called plasmids, amplifying them in bacteria and then using known sequences of human DNA to isolate strands for sequencing. (scientificamerican.com)
Comparing the similar sequences of Neandertal and human DNA, Rubin's group determined that the two genomes are at least 99.5 percent identical. (scientificamerican.com)
According to Rubin, the sequences provide the beginnings of a "DNA time machine" that will help update anthropological inferences about human and Neandertal populations. (scientificamerican.com)
Going forward, Rubin plans to construct a library of sequence fragments so that future researchers can compare human sequences with Neandertal sequences easily. (scientificamerican.com)
Sequences of human parechoviruses were identified in samples from 6 of 65 persons. (cdc.gov)
This algorithm enabled the description of detailed mutation sequences in 20 highly dynamic regions in the human genome, and additional complex variants on chromosome Y. Six complex loci associate directly with a genomic disease, thereby highlighting in detail the intrinsic link between inversions and CNVs. (uni-heidelberg.de)
developed a coalescence model that looks at divergence between gene lineages and can be used to estimate past population size, using it to analyze genomic sequences from 3154 people from 10 African and 40 non-African populations. (popular-archaeology.com)
Five genomic lambda clones containing human PAX2 gene sequences were isolated. (uni-kiel.de)
G-quadruplex (G4) DNA, an alternate structure formed by Hoogsteen hydrogen bonds between guanines in G-rich sequences, threatens genomic stability by perturbing normal DNA transactions including replication, repair, and transcription. (nih.gov)

The latest data and insights add to a growing understanding of the patterns of variation in individuals' genomes, and provide a foundation for gaining greater insights into the genomics of human disease. (genome.gov)
San Mateo, California - July 18, 2017 - Cloudian , Inc., a global leader in hybrid-cloud object storage systems, today announced it is working with ScaleMatrix and OnRamp BioInformatics to improve efficiencies of data analysis and storage for life sciences companies focused on human genomics. (scalematrix.com)
ScaleMatrix, a hybrid-cloud services provider, operates a 14,000-square-foot life-sciences incubator that couples a CLIA-certified genomics laboratory with a state-of-the-art datacenter powering Cloudian object storage and OnRamp BioInformatics genomic analysis software. (scalematrix.com)
We're helping power developments in human genomics that can ultimately lead to new discoveries in health, drug development and longevity. (scalematrix.com)
Comparative genomics is a particularly attractive approach to reveal the molecular underpinnings of disease in inbred animals with the hope of gaining new insights into these diseases in dogs and humans," says Ginns. (tufts.edu)
The H3Africa initiative will help develop expertise among African scientists, foster increased collaboration among African investigators, enhance the infrastructure for genomics research in Africa, and contribute to the training of the next generation of African researchers in the use of contemporary genomic approaches in the study of important health problems. (nih.gov)
With Automata's support, the hospital's Clinical Genomics Service, which is the cancer testing laboratory for the North Thames Genomics Laboratory Hub (NTGLH), will double its genomic testing capacity through a new robotic sample processing platform. (iptonline.com)
Professor Michael Hubank, scientific director of Clinical Genomics at The Royal Marsden NHS Foundation Trust and professor of Translational Genomics at the Institute of Cancer Research, London, said: "Thanks to Automata's innovative robotic technology, this UK-first clinical diagnostics installation will transform genomic testing at The Royal Marsden by streamlining our processes, substantially increasing our capacity without compromising accuracy. (iptonline.com)

The human pangenome is a more comprehensive framework that aims to account for genomic variation across human populations, thereby reducing biases that can come with the use of a single reference human genome sequence. (genome.gov)
Among the lingering questions is whether the two populations intermixed after humans migrated out of Africa and encountered Neandertals in Europe 30,000 to 40,000 years ago. (scientificamerican.com)
In the main Nature study, investigators identified about 88 million sites in the human genome that vary among people, establishing a database available to researchers as a standard reference for how the genomic make-up of people varies in populations and around the world. (genome.gov)
The study showed that the greatest genomic diversity is in African populations, consistent with evidence that humans originated in Africa and that migrations from Africa established other populations around the world. (genome.gov)
These reports mark the culmination of the 1000 Genomes Project, which found more than 99 percent of variants in the human genome that occur at a frequency of at least 1 percent in the populations studied. (genome.gov)
About one-quarter of these variants are common and occur in many or all populations, while about three-quarters occur in only 1 percent of people or are even more rare," said Lisa Brooks, Ph.D., program director in the NHGRI Genomic Variation Program. (genome.gov)
When the 1000 Genomes Project was first launched in 2008, there wasn't much understanding of how rare genomic variants were distributed among populations around the world and their relationship to other variants," said Adam Auton, Ph.D., the main study senior author and principal investigator who until recently was assistant professor of genetics at the Albert Einstein College of Medicine in New York City. (genome.gov)
The best evidence supports 21 ancestries that delineate genetic structure of present-day human populations. (nature.com)
Initial efforts to characterize the movement of early humans in relation to ancestry grouped populations according to five geographical regions: Sub-Saharan Africa, Europe/the Middle East/Central Asia/South Asia, East Asia, Oceania, and the Americas 9 . (nature.com)
If, as seems likely, humans were widespread inside and outside of Africa in the period between about 800-900,000 years BP … whatever caused the inferred bottleneck was limited in its effects on the wider non- sapiens lineage populations, or any effects were short-lived," the Perspective authors add. (popular-archaeology.com)
Results Here we show that accurate genomic estimates of the divergence times between European and African populations are more recent than those between Australo-Melanesia and Africa, and incompatible with the effects of a single dispersal. (biorxiv.org)
The genomic and clinical resources generated by H3Africa investigators will facilitate studies of the environmental, cultural and genetic determinants of diseases that are important to Africans and other human populations. (nih.gov)
Genomic prediction (GP) across different populations and environments should be enhanced to increase the efficiency of crop breeding. (mdpi.com)
By increasing diversity in genomic studies, researchers can better tailor new treatments that benefit all populations. (medlineplus.gov)

There are multiple types of variants in human genomes, ranging from small differences to large differences. (genome.gov)
A very small subset of genomic variants contributes to human health and disease. (genome.gov)
that person's set of genomic variants accounts for the ~0.4% difference. (genome.gov)
The differences among human genomes are called genomic variants. (genome.gov)
A person's set of genomic variants is part of what makes them unique. (genome.gov)
Most genomic variants have no influence on the functioning of a person's genome, but a small subset of variants do have an impact. (genome.gov)
What are the different types of genomic variants? (genome.gov)
There are multiple types of genomic variants. (genome.gov)
The smallest genomic variants are single-nucleotide variants (SNVs). (genome.gov)
Understanding how genomic variants contribute to disease may help clinicians develop improved diagnostics and treatments, in addition to new methods of prevention. (genome.gov)
The 1000 Genomes Project data are a resource for any study in which scientists are looking for genomic contributions to disease, including the study of both common and rare variants. (genome.gov)
One of the more immediate uses of 1000 Genomes Project data is for genome-wide association studies (GWAS), which compare the genomes of people with and without a disease to search for regions of the genome that contain genomic variants associated with that disease. (genome.gov)
Such studies generally find several genomic regions associated with a disease and many variants in each of those regions. (genome.gov)
The human pangenome reference will enable us to represent tens of thousands of novel genomic variants in regions of the genome that were previously inaccessible. (nanoporetech.com)

Genomic characterization showed this virus was distinct enough from reported HPeV types to qualify as candidate prototype for the seventh HPeV type. (cdc.gov)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (nih.gov)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (nih.gov)

While the human reference genome has been a remarkable enabling resource for the scientific community for the past 20 years, it has always been fundamentally limited by its representation of such a small proportion of human genetic diversity. (nanoporetech.com)
To overcome this issue, the Human Pangenome Reference Consortium (HPRC) recently published the first draft of a new, graph-based approach to a reference: the pangenome, which represents a broader range of genetic diversity through the inclusion of sequence data from people of many different ancestries 1 . (nanoporetech.com)
These results offer an excellent set of predictions which we used in the present study to test whether current genomic diversity is better accounted for by processes involving a Single major Dispersal (hereafter: SD) or Multiple major Dispersals (hereafter: MD) from Africa. (biorxiv.org)
Although the clinical importance of these microorganisms continues to expand, our understanding of their genomic diversity is limited, hampering basic and translational studies alike. (cdc.gov)

In particular, several genomic studies suggested the existence of relationships between gene expression and genomic position. (biomedcentral.com)

Here, we tested whether ALKBH6 plays a significant role in preventing alkylating DNA damage and decreasing genomic instability in pancreatic cancer cells. (frontiersin.org)
Genomic Instability. (nih.gov)

Genetic and archaeological studies have established a sub-Saharan African origin for anatomically modern humans with subsequent migrations out of Africa. (nature.com)
However, it is unclear whether early modern humans left Africa through a single, major process, dispersing simultaneously over Asia and Europe, or in two main waves, first through the Arab peninsula into Southern Asia and Oceania, and later through a Northern route crossing the Levant. (biorxiv.org)
African scientists will conduct genomic research on kidney disease, diabetes, heart disease, obesity, tuberculosis and African sleeping sickness through inaugural grants of the Human Heredity and Health in Africa Consortium (H3Africa). (nih.gov)

The other 4 parechovirus types were identified more recently from young children with clinical manifestations similar to those caused by human enteroviruses: HPeV3 in 2002 ( 3 ), HPeV4 in 2005 ( 4 ), and HPeV5 ( 5 ) and HPeV6 ( 6 ) in 2006. (cdc.gov)
Not permitted for use in humans or animals or for diagnostics, therapeutic, or other clinical uses. (3hbiomedical.com)
Using revolutionary new technology, NovaSeq X Plus can generate more than 20,000 whole genomes per year - 2.5 times the throughput of prior sequencers - greatly accelerating genomic discovery and clinical insights, to understand disease and ultimately transform patient lives. (illumina.com)
Among those is canine compulsive disorder (CCD), the counterpart to human obsessive compulsive disorder (OCD)," says the study's first and corresponding author Nicholas Dodman, BVMS, DACVA, DACVB, professor in clinical sciences and section head and program director of animal behavior at Cummings School of Veterinary Medicine at Tufts University. (tufts.edu)
Genomic research on human neuropsychiatric disorders can be challenging due to the genetic heterogeneity of disease in humans," says neurologist Edward Ginns, MD, PhD, professor of psychiatry, neurology, pediatrics and clinical pathology, and director, program in medical genetics at the University of Massachusetts Medical School and a co-author on the new study. (tufts.edu)
Together, Automata and The Royal Marsden will establish the UK's first fully automated system for clinical cancer genomic testing. (iptonline.com)
Develop the skills and knowledge to apply genomic technologies and data interpretation to clinical practice or scientific research. (manchester.ac.uk)
Learn from clinical and academic experts from The University of Manchester, Manchester Centre for Genomic Medicine. (manchester.ac.uk)
Alissa Interpret is your universal genomic data interpretation software for clinical decision support. (agilent.com)

Human centromeres typically form at large megabase-sized arrays of alpha satellite DNA for which there is little genomic understanding due to its repetitive nature. (duke.edu)

Several different methods for the estimation of individual genome-wide homozygosity have been developed in both animal and human genetics. (biomedcentral.com)
Internal relatedness (IR) or allelic distance [ 6 ] are commonly used in animal genetics, but neither of these have been used in human genetics studies. (biomedcentral.com)
Therefore, population genetics-based prediction of LOF-intolerant genes is a powerful strategy to discover haploinsufficient genes associated with human disease. (biomedcentral.com)

BioChain's tissue genomic DNAs are isolated from a wide variety of tissues using a proprietary modified guanidine thiocyanate technique. (biochain.com)
We assessed the genomic fidelity of paired early- and late-passage hESC lines in the course of tissue culture. (nih.gov)

An international team of scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans, providing researchers with powerful clues to help them establish why some people are susceptible to various diseases. (genome.gov)
The 1000 Genomes Project was an ambitious, historically significant effort that has produced a valuable resource about human genomic variation," said Eric Green, M.D., Ph.D., director of NHGRI. (genome.gov)
Chinese researchers claim to have used to cutting edge techniques to tweak the genomes of human embryos. (sciencemediacentre.co.nz)
We observed that M. avium isolates from different sources-human pulmonary infections, human disseminated infections, animals, and natural environments-are readily distinguished by their core and accessory genomes, by their patterns of horizontal gene transfer, and by numerous specific genes, including virulence factors. (cdc.gov)

Here, we discuss the organization of human centromeres as well as genomic and functional variation in human centromere location, and current understanding of the genomic and epigenetic mechanisms that underlie centromere flexibility in humans. (duke.edu)
In the Lab of Epigenetics and Chromatin Dynamics ( https://www.stemcellcenter.lu.se/research-groups/douse ) we are interested in how this genomic dark matter is controlled by epigenetic mechanisms during human brain development. (lu.se)

Gene expression data from 24 experiments for 8 different cell types of the human myelopoietic lineage were used to generate an integrated myelopoiesis dataset of 9,425 genes, each reliably associated to a unique genomic position and chromosomal coordinate. (biomedcentral.com)
Then, the genomic distribution of myelopoiesis genes was investigated integrating transcriptional and functional characteristics of genes. (biomedcentral.com)
The analysis of genomic expression during human myelopoiesis using an integrative computational approach allowed discovering important relationships between genomic position, biological function and expression patterns and highlighting chromatin domains, including genes with coordinated expression and lineage-specific functions. (biomedcentral.com)
The analysis of transcriptome data in the perspective of the genomic organization of genes could certainly shed light not only on the aberrations leading to pathological states but also on the physiological mechanisms of all cellular processes, including cellular differentiation. (biomedcentral.com)
CGH does, however, allow for the exploration of all 46 human chromosomes in single test and the discovery of deletions and duplications, even on the microscopic scale which may lead to the identification of candidate genes to be further explored by other cytological techniques. (wikipedia.org)
Recently, there have been numerous computational methods developed to predict human essential genes from population genomic data. (biomedcentral.com)
While the existing methods are highly predictive of essential genes of long length, they have limited power in pinpointing short essential genes due to the sparsity of polymorphisms in the human genome. (biomedcentral.com)
Motivated by the premise that population and functional genomic data may provide complementary evidence for gene essentiality, here we present an evolution-based deep learning model, DeepLOF, to predict essential genes in an unsupervised manner. (biomedcentral.com)
Unlike previous population genetic methods, DeepLOF utilizes a novel deep learning framework to integrate both population and functional genomic data, allowing us to pinpoint short essential genes that can hardly be predicted from population genomic data alone. (biomedcentral.com)
Compared with previous methods, DeepLOF shows unmatched performance in predicting ClinGen haploinsufficient genes, mouse essential genes, and essential genes in human cell lines. (biomedcentral.com)
Determining which genes are LOF intolerant can aid with discovery of human disease genes. (biomedcentral.com)
We have developed a novel algorithm (PVP) which augments existing strategies by using the similarity of the patients phenotype to known phenotype-genotype data in human and model organism databases to further rank potential candidate genes. (plos.org)
Identification of a new cancer/testis gene family, CT47, among expressed multicopy genes on the human X chromosome. (nih.gov)
Subsequent genomic sequence analysis of multiple genes including elongation factor 3, a component of fungi protein synthesis not found in protozoa, further supported this notion. (medscape.com)
The Human Genome Project has already fueled the discovery of more than 1,800 disease genes . (medlineplus.gov)

The pieces are then sequenced directly, and researchers reassemble them by mapping them to similar sections in the human genome. (scientificamerican.com)
The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), helped fund and direct this international public-private consortium of researchers in the United States, the United Kingdom, China, Germany and Canada. (genome.gov)
Using an on-site Illumina sequencer at the incubator, researchers and biologists can generate genomic data then use genomic software from OnRamp BioInformatics to rapidly process and interpret data in ScaleMatrix's GPU-enabled high-density compute farm and efficiently store valuable insights and data to Cloudian object storage. (scalematrix.com)
The Cloudian deployment enables researchers to store, tag, track and retrieve large amounts of data intelligently and cost-effectively, while the OnRamp BioInformatics software streamlines and simplifies genomic data analysis so that biologists, clinicians and drug developers can unlock valuable insights. (scalematrix.com)
Unlike public cloud storage, Cloudian has no access charges and easily scales to genomic proportions, so researchers can stay within their budgets and retain the data they need. (scalematrix.com)
The proposed bottleneck also coincided with the time that many researchers think the last common ancestor of Denisovans, Neanderthals and modern Homo sapiens lived, but the bottleneck theory needs to be tested against the archaeological and fossil human evidence, Nick Ashton and Chris Stringer write in a related Perspective. (popular-archaeology.com)
If the canine construct is fully accepted by other OCD researchers, this spontaneously-occurring model of the condition in humans, right down to the biological pathways involved, could help point the way to novel and more effective treatments for such a debilitating condition," Dodman says. (tufts.edu)
We affirm our support for the concept of information and data sharing in order to encourage researchers to exchange new ideas, data, and technologies across the Genomic Science program and the wider scientific community. (energy.gov)
The Broad Institute of MIT and Harvard today announced a $25 million collaboration with Intel Corporation to scale researchers' ability to analyze massive amounts of genomic data from diverse sources worldwide. (broadinstitute.org)
Through a five-year collaboration, researchers and software engineers at the new Intel-Broad Center for Genomic Data Engineering will build, optimize, and widely share new tools and infrastructure that will help scientists integrate and process genomic data. (broadinstitute.org)
What happened when genomic researchers targeted more diverse groups of people in their studies? (medlineplus.gov)
It can also help researchers understand the full potential of the human genome. (medlineplus.gov)

We considered the four most commonly used methods and investigated their applicability to single-nucleotide polymorphism (SNP) data in both a simulation study and by using the human genotyped data. (biomedcentral.com)

This genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases. (genome.gov)
Genomic variation reflects the differences in a person's DNA compared to other peoples' DNA. (genome.gov)
SNVs are the most common type of genomic variation. (genome.gov)
A similar inverted repeat-mediated mechanism may underlie structural variation in many other regions of the human genome. (nih.gov)
The project incorporated nanopore data and added 119 Mb of sequence data, including 90 Mb of structural variation, to the GRCh38 human reference genome. (nanoporetech.com)
Genomic and functional variation of human centromeres. (duke.edu)
A genomic atlas of systemic interindividual epigenetic variation in humans. (msdmanuals.com)

We have made significant progress during the previous granting period which has resulted in a publication in Genome Research detailing genomic DNA methylation changes in a variety of human embryonic stem cells and their derivatives. (ca.gov)
Relative to early-passage lines, eight of nine late-passage hESC lines had one or more genomic alterations commonly observed in human cancers, including aberrations in copy number (45%), mitochondrial DNA sequence (22%) and gene promoter methylation (90%), although the latter was essentially restricted to 2 of 14 promoters examined. (nih.gov)
Genomic DNA methylation study. (3hbiomedical.com)

Comparative genomic hybridization (CGH) is a molecular cytogenetic method for analysing copy number variations (CNVs) relative to ploidy level in the DNA of a test sample compared to a reference sample, without the need for culturing cells. (wikipedia.org)
Development of proposals for governmental institutions to improve the existing legislation concerning the protection of human genome data and molecular testing. (p3gobservatory.org)
To elucidate the role of FANCJ in genomic stability, its molecular functions in G4 metabolism were examined. (nih.gov)
Human evidence of this is provided by molecular analysis of Pneumocystis isolates obtained from groups of patients involved in hospital outbreaks. (medscape.com)

We identified complex genomic rearrangements consisting of intermixed duplications and triplications of genomic segments at the MECP2 and PLP1 loci. (nih.gov)

DNA sequencing is important for our future and for human longevity, but the cost of storing and analyzing genomic data is a significant hurdle," said Tim Wesselman, CEO of OnRamp Bioinformatics. (scalematrix.com)

Genomic testing is currently labour-intensive and involves repetitive tasks, so fully automating the process will give our scientists and technicians more time to focus on quality and on the scientific aspects of their important work. (iptonline.com)
Despite their abundance, scientists have yet to fully understand their role in human biology - in large part due to technological limitations in studying these genetic repeats. (lu.se)

As we generate more sequence, [the divergence estimates] could come together," says Rubin, whose team also determined the point when Neandertal and human ancestors stopped interbreeding: about 370,000 years ago. (scientificamerican.com)

Our ability to manage, prevent and treat fibropapillomatosis is severely hampered by a lack of knowledge of the disease's triggers and the genomic events driving tumor formation and growth. (nature.com)
BioChain's Genomic DNAs are available from human tumor tissues. (biochain.com)

Previously, a probe-selection method based on hybridisation of genomic DNA (gDNA) was developed, which enables GeneChips to be used for species that they were not designed for. (cambridge.org)
In this study, we demonstrate that gDNA-based probe selection on the Affymetrix Human U133+2 GeneChip array can be used to study gene expression profiles in sheep tissues. (cambridge.org)
RNAs-free Human PBMC Genomic DNA, gDNA, Single donor. (3hbiomedical.com)

This difference cannot possibly be accounted for by the effects of hybridization with archaic human forms in Australo-Melanesia. (biorxiv.org)

Genomic alterations in cultured human embryonic stem cells. (nih.gov)
Thus, continuous monitoring of the viral genomic alterations would be vital to identify potential targets for drug or vaccine development. (news-medical.net)

Inversions exhibited various underlying formation mechanisms, promotion of gene dysregulation, widespread recurrence, and association with genomic disease. (uni-heidelberg.de)

The catalog more than doubles the number of known variant sites in the human genome, and can now be used in a wide range of studies of human biology and medicine, providing the basis for a new understanding of how inherited differences in DNA can contribute to disease risk and drug response. (genome.gov)
Our recent Communications Biology research article revealed the genomic drivers and therapeutic vulnerabilities of sea turtle fibropapillomatosis tumors. (nature.com)
In contrast, studies on the effects of homozygosity levels on human biology and health are quite rare. (biomedcentral.com)
This unexplored area is a rich potential source of new biology and insights into how repetitive DNA affects human health. (lu.se)

All the complex rearrangement products share a common genomic organization, duplication-inverted triplication-duplication (DUP-TRP/INV-DUP), in which the triplicated segment is inverted and located between directly oriented duplicated genomic segments. (nih.gov)
This study aimed at investigating the genomic expression during myeloid differentiation through a computational approach that integrates gene expression profiles with functional information and genome organization. (biomedcentral.com)

The aim of this technique is to quickly and efficiently compare two genomic DNA samples arising from two sources, which are most often closely related, because it is suspected that they contain differences in terms of either gains or losses of either whole chromosomes or subchromosomal regions (a portion of a whole chromosome). (wikipedia.org)
It was concluded that the fluorescence ratios obtained were accurate and that differences between genomic DNA from different cell types were detectable, and therefore that CGH was a highly useful cytogenetic analysis tool. (wikipedia.org)

Using the largest multi-locus data set known to date, we investigated genetic differentiation of early modern humans, human admixture and migration events, and relationships among ancestries and language groups. (nature.com)
Here, we employed a human pancreatic differentiation platform complemented with an shRNA screen in human pluripotent stem cells (PSCs) to identify potential drivers of early endoderm and pancreatic development. (mdpi.com)
Human myelopoiesis is an exciting biological model for cellular differentiation since it represents a plastic process where multipotent stem cells gradually limit their differentiation potential, generating different precursor cells which finally evolve into distinct terminally differentiated cells. (biomedcentral.com)

SAN DIEGO , Sept. 29, 2022 /PRNewswire/ -- Illumina, Inc. (NASDAQ: ILMN), a global leader in DNA sequencing and array-based technologies, today announced the launch of the NovaSeq™ X Series (NovaSeq X and NovaSeq X Plus), new production-scale sequencers that will push the limits of what is possible with genomic medicine, enabling faster, more powerful, and more sustainable sequencing. (illumina.com)

Building upon an existing collaboration, the new effort will apply Intel's data analytics and artificial intelligence prowess with Broad's expertise in genomic data generation, health research, and analysis tools toward the goal of building new resources that will promote biomedical discoveries, including those that advance precision medicine. (broadinstitute.org)
Intel and Broad share the common vision of harnessing the power of genomic data and making it widely accessible for research around the world to yield important discoveries," said Diane Bryant, executive vice president and general manager of the Data Center Group for Intel Corporation. (broadinstitute.org)

Cultured human embryonic stem cell (hESC) lines are an invaluable resource because they provide a uniform and stable genetic system for functional analyses and therapeutic applications. (nih.gov)

The Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine is pioneering a revolutionary approach to healthcare. (mcw.edu)
Our work is a step toward building something analogous to a superhighway to connect disparate databases of genomic information for the advancement of research and precision medicine. (broadinstitute.org)

Cloudian's petabyte-scalable storage is the ideal platform to quickly and cost-effectively accommodate the data volumes inherent in genomic research. (scalematrix.com)
Research led by investigators in veterinary and human medicine has identified genetic pathways that exacerbate severity of canine compulsive disorder in Doberman pinschers, a discovery that could lead to better therapies for obsessive compulsive disorder in people. (tufts.edu)
Additionally, MRI research in 2013 from Cummings School of Veterinary Medicine at Tufts University and McLean Imaging Center at McLean Hospital showed that the structural brain abnormalities of Doberman pinschers afflicted with canine compulsive disorder (CCD) were similar to those of humans with OCD. (tufts.edu)
Genome-wide homozygosity estimation from genomic data is becoming an increasingly interesting research topic. (biomedcentral.com)
Subsequent research was mainly focused mainly on the effects of inbreeding on human fertility, early morbidity and mortality, and the effects on quantitative biological traits [ 8 - 10 ]. (biomedcentral.com)
This statement summarizes the data- and information-sharing policy of the Genomic Science research program at the Department of Energy's (DOE) Office of Biological and Environmental Research (BER). (energy.gov)
The Biological and Environmental Research (BER) Program requires that all publishable data, metadata, and software resulting from research funded by the Genomic Science program must conform to community-recognized standard formats when they exist, be clearly attributable, and be deposited within a community-recognized public database(s) appropriate for the research. (energy.gov)
All digitally accessible data obtained as a result of research funded by the Genomic Science program must be kept in an archive maintained by the Principal Investigator (PI) for the duration of the funded project. (energy.gov)
The publication of information resulting from research funded by the Genomic Science program must be consistent with the intellectual property provisions of the contract under which the publishable information was produced. (energy.gov)
This is important because the majority of genomic research has been based on people of white European ancestry. (medlineplus.gov)

To facilitate further analysis of PAX2 mutations in human disease, we have now determined the complete structure of the human PAX2 gene. (uni-kiel.de)
These data will be useful in characterizing the role of PAX2 in human disease. (uni-kiel.de)
Similar results are demonstrated for human disease proteins with known polymorphisms. (aaai.org)

Please visit the Genomic Medicine CPD units page. (manchester.ac.uk)

Just this month two studies, from Washington University in St. Louis and the University of Chicago, suggested that indirect evidence from human DNA indicates intermingling occurred. (scientificamerican.com)
Any scientist in the future who studies some particular gene and finds something functionally important between humans and the great apes and shows that that's really functionally important will immediately be able to look in the computer and see what the Neandertals [were] like," Pbo says. (scientificamerican.com)
The use of several different methodological approaches and hence different homozygosity measures can help to distinguish between homozygosity-by-state and homozygosity-by-descent in studies investigating the effects of genomic autozygosity on human health. (biomedcentral.com)
Estimates of inbreeding coefficients in human studies have traditionally been computed from genealogical data, although their reliability has often been in question, with problems including incomplete genealogical records or false paternities [ 11 ]. (biomedcentral.com)
Since the emergence of the COVID-19 pandemic, many genomic studies have shown that the SARS-CoV-2 genome undergoes recurrent mutations, indicating a continuous viral adaptation process inside host cells. (news-medical.net)

Distinct genomic variability exists between host-specific members of the genus. (medscape.com)

No previously recorded study in humans or dogs has addressed the factors that drive severity in OCD and CCD. (tufts.edu)
The aim of this study was to compare different methods for estimating individual homozygosity-by-descent based on the information from human genome-wide scans rather than genealogies. (biomedcentral.com)
Here we characterize the genetic architecture of the human plasma proteome in healthy blood donors from the INTERVAL study. (bvsalud.org)
It's no exaggeration to say that we're at the dawn of a new genomic era in which the systematic study of repeats and their functions is possible," says Christopher Douse. (lu.se)

Most human cells have two copies of the human genome, with one copy inherited from each parent. (genome.gov)
We have identified a new motif, termed SMAD Complex Associated (SCA) that is bound by SMAD2/3/4 and FOXH1 in human embryonic stem cells (hESCs) and derived endoderm. (ca.gov)
To elucidate the Nodal transcriptional network that governs endoderm formation, we used ChIP-seq to identify genomic targets for SMAD2/3, SMAD3, SMAD4, FOXH1 and the active and repressive chromatin marks, H3K4me3 and H3K27me3, in human embryonic stem cells (hESCs) and derived endoderm. (ca.gov)
In particular, the loss of ALKBH6 in human pancreatic cancer cells increases alkylating agent-induced DNA damage and significantly decreases cell survival. (frontiersin.org)
Human PBMC Genomic DNA was prepared from purified healthy human peripheral blood mononuclear cells (PBMCs). (3hbiomedical.com)
The authors painted a series of individual human chromosomes from a DNA library with two different fluorophores in different proportions to test the technique, and also applied CGH to genomic DNA from patients affected with either Downs syndrome or T-cell prolymphocytic leukemia as well as cells of a renal papillary carcinoma cell line. (wikipedia.org)
The G4 ligand telomestatin induced DNA damage in human cells deficient in FANCJ but not DDX11 or XPD. (nih.gov)
In short, MUTZ-3 cells, representing a well-characterized in vitro model of human dendritic cells (DCs), are exposed to the test substances for 24 h. (lu.se)

Dogs naturally suffer complex diseases, including mental disorders that are similar to those in humans. (tufts.edu)

Consequently, it has been difficult to achieve genome assemblies at centromeres using traditional next generation sequencing approaches, so that centromeres represent gaps in the current human genome assembly. (duke.edu)

Background Anthropological and genetic data agree in indicating the African continent as the main place of origin for modern human. (biorxiv.org)

To be considered a SNP, a SNV must be present in at least 1% of the human population. (genome.gov)
This thesis describes several highly inter-connected projects aimed at identifying and functionally characterizing inversions present in the human population and related great ape species. (uni-heidelberg.de)
AMERICAN ASSOCIATION FOR THE ADVANCEMENT OF SCIENCE (AAAS)-Between 800,000 and 900,000 years ago, the population of human ancestors crashed, according to a new genomic model* by Wangjie Hu and colleagues. (popular-archaeology.com)

Genomic imprinting and human psychology: cognition, behavior and pathology. (bvsalud.org)

The size of genomic datasets doubles about every eight months and, as it does, the challenge of acquiring, processing, storing, and analyzing this information increases as well," said Eric Banks, director of the Data Sciences and Data Engineering group at the Broad Institute. (broadinstitute.org)

The second locus significantly correlated with severe CCD was on chromosome 11, the same chromosome that contains a gene thought to increase the risk of schizophrenia in humans. (tufts.edu)

These findings suggest FANCJ is a specialized Fe-S cluster helicase that preserves chromosomal stability by unwinding unimolecular G4 DNA likely to form in transiently unwound single-stranded genomic regions. (nih.gov)
Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above. (nih.gov)

The former are considerably more informative, but the latter are far more numerous across the human genome and with the advent of array-based typing technologies also economically more feasible to determine on a genome wide scale. (biomedcentral.com)

It is now possible to trace the migratory paths of anatomically modern humans using genetic data. (nature.com)
Anatomically modern humans (AMH), defined by a lightly built skeleton, a large brain, reduced face and prominent chin, first appear in the East African fossil record around 200,000 years ago [ 1 , 2 ]. (biorxiv.org)

Anatomy29

Organisms10

Diseases7

Chemicals and Drugs44

Analytical, Diagnostic and Therapeutic Techniques and Equipment46

Phenomena and Processes146

Disciplines and Occupations4

Anthropology, Education, Sociology and Social Phenomena1

Technology, Industry, Agriculture1

Information Science12

Health Care6

Sequences11

Genomics8

Populations14

Variants14

Characterization3

Diversity4

Several genomic1

Instability2

Africa3

Clinical9

Understanding due to its1

Genetics3

Tissue2

Genomes4

Epigenetic mechanisms2

Genes15

Researchers12

Single-nucleotide1

Variation7

Methylation3

Molecular4

Loci1

BioInformatics1

Scientists2

Sequence1

Tumor2

GDNA3

Hybridization1

Alterations2

Mechanisms1

Biology4

Organization2

Differences2

Differentiation3

Sequencers1

Discoveries2

Functional1

Precision medicine2

RESEARCH10

Disease3

Medicine1

Studies5

Distinct1

Study4

Cells8

Diseases1

Approaches1

Main1

Population3

Pathology1

Doubles1

Chromosome1

Regions2

Typing technologies1

Anatomically2