), the Ontario Ministry of Research and Innovation Ontario Institute for Cancer Research Investigator Award (P.A., J.S. This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported licence. Lines represent the within-population median PSMC estimate, smoothed by fitting a cubic spline passing through bin midpoints. d, The percentage of eQTLs in TFBS, having performed discovery in the first population, and fine mapped by including an additional 69 samples from a second population (*P < 0.01, **P < 0.001, ***P < 0.0001, McNemars test). a, Population structure inferred using a maximum likelihood approach with 8 clusters. A global reference for human genetic variation - ResearchGate is on the speakers bureau for Illumina, P.A. Compared to phase 1, the number of imputed common and intermediate frequency variants increased by 7%, whereas the number of rare variants increased by >50%, and the number of indels increased by 70% (Supplementary Table 6). Overall, we discovered, genotyped, and phased 88 million variant sites (Supplementary Table 3). To evaluate how these differences influence the resolution of genetic association studies and, in particular, their ability to identify a narrow set of candidate functional variants, we evaluated the number of tagging variants (r2 > 0.8) for a typical variant in each population. Nature Rev. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons licence, users will need to obtain permission from the licence holder to reproduce the material. Publication Date. & Marchini, J. Genotype calling and phasing using next-generation sequencing reads and a haplotype scaffold. The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. ), U41HG7497 (C.L., M.A.B., K.C., L.D., E.E.E., M.G., J.O.K., G.T.M., S.A.M., R.E.M., J.L.S., K.Y. ), R01HL87699 and R01HL104608 (K.C.B. Thus, we predict that the samples will accumulate many types of data that will allow connections to be drawn between variants and both molecular and disease phenotypes. Furthermore, we estimate heterozygous genotype accuracy at 99.4% for SNPs and 99.0% for indels (Supplementary Table 4), a threefold reduction in error rates compared to our previous release2, resulting from the larger sample size, improvements in sequence data accuracy, and genotype calling and phasing algorithms. Nature Genet. We find that each common variant typically has over 1520 tagging variants in non-African populations, but only about 8 in African populations (Fig. Sequence analysis methods improved with the development of strategies for identifying and filtering poor-quality data, for more accurate mapping of sequence reads (particularly in repetitive regions), for exchanging data between analysis tools and enabling ensemble analyses, and for capturing more diverse types of variants. No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans. ), P01GM99568 (S.R.B. Sci-Hub | A global reference for human genetic variation. Nature, 526 We find that centromere single-nucleotide variation can increase by up to 4.1-fold relative to other genomic . A global reference for human genetic variation. b, The number of variant sites per genome. 15, 335346 (2014), Gold, B. et al. Nature 512, 190193 (2014), Article f, Heterozygote genotype discordance as a function of sequencing depth, as compared to Complete Genomics data. PDF A global reference for human genetic variation - Harvard University PDF | On Jul 28, 2015, Xiaosen Guo and others published A global reference for human genetic variation_Supplementary_Text_20150728 | Find, read and cite all the research you need on ResearchGate 8, e1002793 (2012), Article Using a meta-analysis approach to combine pairs of populations, the proportion of top eQTL variants overlapping TFBSs increased to 19.221.6% (Fig. & McVean, G. Demography and the age of rare variants. 12742: 2015: . Main The 1000 Genomes Project has already elucidated the properties and distribution of common and rare variation, provided insights into the processes that shape genetic diversity, and advanced understanding of disease biology 1, 2. Nature Biotechnol. the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in ), the UK Biotechnology and Biological Sciences Research Council grants BB/I02593X/1 (G.M.) The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Nature Genet. are affiliated with Affymetrix, E.T.D. Nature 489, 5774 (2012), Stranger, B. E. et al. A global reference for human genetic variation. Immunology 4): we observed 2,000 variants per genome associated with complex traits through genome-wide association studies (GWAS) and 2430 variants per genome implicated in rare disease through ClinVar; with European ancestry genomes at the high-end of these counts. Comparison to haplotypes constructed from fosmids suggests the average distance between phasing errors is 1,062 kb, with typical phasing errors stretching 37 kb (Supplementary Table 12). You are using a browser version with limited support for CSS. Aim 1. We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease studies. 40, 892896 (2008), The ENCODE Project Consortium. ), the Beatriu de Pinos Program grants 2006 BP-A 10144 and 2009 BP-B 00274 (M.V. ), Ewha Womans University (C.L. Sci. 3b). A general approach for haplotype phasing across the full spectrum of relatedness. USA 107, 74017406 (2010), Wakefield, J. Bayes factors for genome-wide association studies: comparison with P-values. 44, 12941301 (2012), Fritsche, L. G. et al. ), and grants WT098051 (R.D. Nature (Nature) 3b). a, The number of variants within the phase 3 sample as a function of alternative allele frequency. Overall, a typical eQTL signal comprised 67 associated variants, including an indel as one of the top associated variants 2640% of the time (Fig. Xiaosen Guo Abstract and Figures The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set. Nature. DOI. Type: Article. http://creativecommons.org/licenses/by-nc-sa/3.0/, Characterization of Danube Swabian population samples on a high-resolution genome-wide basis, Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations, Inferring biological kinship in ancient datasets: comparing the response of ancient DNA-specific software packages to low coverage data, Applications of long-read sequencing to Mendelian genetics, ERStruct: a fast Python package for inferring the number of top principal components from whole genome sequencing data, An integrated map of structural variation in 2,504 human genomes, The end of the start for population sequencing, Sign up for Nature Briefing: Translational Research, Richard A. Gibbs (Principal Investigator), David R. Bentley (Principal Investigator), Elaine R. Mardis (Co-Principal Investigator) (Co-Chair), ,Richard K. Wilson (Co-Principal Investigator), Stephen T. Sherry (Principal Investigator), Richard M. Durbin (Principal Investigator), Jeanette P. Schmidt (Principal Investigator), Seungtai C. Yoon (Principal Investigator), Pardis C. Sabeti (Principal Investigator), Daniel G. MacArthur (Principal Investigator), Elaine R. Mardis (Co-Principal Investigator), Jeffrey A. Rosenfeld (Principal Investigator), Carlos D. Bustamante (Principal Investigator), ,Stephen B. Montgomery (Principal Investigator), ,Francisco M. De La Vega (Principal Investigator), Esteban G. Burchard (Principal Investigator), ,Ryan D. Hernandez (Principal Investigator), Andres Ruiz-Linares (Principal Investigator), Emmanouil T. Dermitzakis (Principal Investigator), Gonalo R. Abecasis (Principal Investigator) (Co-Chair), ,Jeffrey M. Kidd (Principal Investigator), ,Gil A. McVean (Principal Investigator) (Co-Chair), ,Jonathan L. Marchini (Principal Investigator), Taras K. Oleksyk (Principal Investigator), ,Brian L. Browning (Principal Investigator), ,Sharon R. Browning (Principal Investigator), ,Matthew E. Hurles (Principal Investigator), ,Chris Tyler-Smith (Principal Investigator), Mark B. Gerstein (Principal Investigator), Steven A. McCarroll (Principal Investigator), Jan O. Korbel (Principal Investigator) (Co-Chair), Charles Lee (Principal Investigator) (Co-Chair), Gonalo R. Abecasis (Principal Investigator), Evan E. Eichler (Principal Investigator) (Co-Chair), Matthew E. Hurles (Principal Investigator), Richard A. Gibbs (Principal Investigator) (Co-Chair), Gabor T. Marth (Principal Investigator) (Co-Chair), Elaine R. Mardis (Principal Investigator), Stephen B. Montgomery (Principal Investigator), Chris Tyler-Smith (Principal Investigator) (Co-Chair), Mark B. Gerstein (Principal Investigator) (Co-Chair), Carlos D. Bustamante (Principal Investigator) (Co-Chair), Paul Flicek (Principal Investigator) (Co-Chair), Stephen T. Sherry (Principal Investigator) (Co-Chair). 19, 16551664 (2009), Mathieson, I. We used the pairwise sequentially Markovian coalescent (PSMC)14 method to characterize the effective population size (Ne) of the ancestral populations (Fig. Due to the shared ancestry of all humans, only a modest number of variants show large frequency differences among populations. The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. is on the scientific advisory board of DNAnexus, and is a consultant for Kunming University of Science and Technology as part of the 1000 China Talent Program, P.F. 2a and Extended Data Fig. Sign up for the Nature Briefing: Translational Research newsletter top stories in biotechnology, drug discovery and pharma. A global reference for human genetic variation - ICH GCP ), the Wellcome Trust Major Overseas program in Vietnam grant 089276/Z.09/Z (S.D. The current human reference genome is predominantly derived from a single individual and it does not adequately reflect human genetic diversity. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-sa/3.0/. Nature 517, 608611 (2015), Gudbjartsson, D. F. et al. Boxes indicate steps in the process and numbers indicate the corresponding section(s) within the Supplementary Information. ), the Canadian Institutes of Health Research Operating grant 136855 and Canada Research Chair (S.G.), Banting Postdoctoral Fellowship from the Canadian Institutes of Health Research (M.K.D. 31, 787789 (2013), Sudmant, P. H. et al. ), P01GM99568 (S.R.B. Details of author contributions can be found in the author list. A global reference for human genetic variation. 4a). Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. Pies are divided into four slices, representing variants private to a population (darker colour unique to population), private to a continental area (lighter colour shared across continental group), shared across continental areas (light grey), and shared across all continents (dark grey). Extended Data Figure 9 Performance of imputation. 10, e1004234 (2014), Menelaou, A. ), U01HG5718 (M.G. Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. In the ARMS2/HTRA1 locus, the most strongly associated variant was now a structural variant (estimated imputation R2 = 0.89) that previously could not be imputed, consistent with some functional studies30. The 1000 Genomes Project Consortium. This resource provides a benchmark for surveys of human genetic variation and constitutes a key component for human genetic studies, by enabling array design3,4, genotype imputation5, cataloguing of variants in regions of interest, and filtering of likely neutral variants6,7. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals . 1a); 86% of variants were restricted to a single continental group. When we examined each of these to define a set of potentially causal variants using a Bayesian Credible set approach29, lists of potentially functional variants were 4 larger than in HapMap2-based analysis and 7% larger than in analyses based on phase 1 (Supplementary Table 9). SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans. a, The median PSMC curve for each population. This multi-stage approach allows the long-range structure of the haplotype scaffold to be maintained while including more complex types of variation. Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers. ), a Le Fonds de Recherche du Qubec-Sant (FRQS) research fellowship (A.H.), Genome Quebec (P.A. Nature 526, 68-74 (2015). Here we report They find that while most common variants are shared across populations, rarer variants are often restricted to closely related populations. The project has now contributed or validated 80 million of the 100 million variants in the public dbSNP catalogue (version 141 includes 40 million SNPs and indels newly contributed by this analysis). Gibbs, R. A., Boerwinkle, E., Doddapaneni, H., Han, Y., Korchina, V., Reid, J. G. (2015). is an advisor to Bina and DNAnexus, F.C.L.H. 3a). 1000 Genomes Project Consortium. Get what matters in translational research, free to your inbox weekly. ), the Marie Curie Actions Career Integration grant 303772 (C.A. We recommend that thresholds aiming for strict control of false positives should be determined using permutations. Adam Auton, Gonalo R. Abecasis, Gonalo R. Abecasis, Gonalo R. Abecasis, Adam Auton or Gonalo R. Abecasis. An integrated map of genetic variation from 1,092 human genomes. Because of the wide availability of the data and samples, these samples have been and will continue to be used for studying many molecular phenotypes. A global reference for human genetic variation 7938: 2012: The mutational constraint spectrum quantified from variation in 141,456 humans. 38, 458462 (2006), Klein, R. J. et al. Hum. Linkage disequilibrium was calculated around 10,000 randomly selected polymorphic sites in each population, having first thinned each population down to the same sample size (61 individuals). ), the Louis Jeantet Foundation (E.T.D. 43, 11931201 (2011), Howie, B., Fuchsberger, C., Stephens, M., Marchini, J. The majority of variants in the data set are rare: 64 million autosomal variants have a frequency <0.5%, 12 million have a frequency between 0.5% and 5%, and only 8 million have a frequency >5% (Extended Data Fig. A global reference for human genetic variation - NASA/ADS B. et al. ), R01GM59290 (L.B.J., M.A.B. & Hong, D. Systematic investigation of cancer-associated somatic point mutations in SNP databases. Its current structure is a linear composite of merged haplotypes from more than 20 . & Abecasis, G. R. Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Volume. A global reference for human genetic variation. - eScholarship (1) A high-quality haplotype scaffold was constructed using statistical methods applied to SNP microarray genotypes (black circles) and, where available, genotypes for first degree relatives (available for 52% of samples; Supplementary Table 11)38. CAS An overview of the sample collection, data generation, data processing, and analysis is given in Extended Data Fig. Abstract. This resource includes >99% of SNP variants with a frequency of >1% for a variety of ancestries. is affiliated with SynapDx, P.D. Individuals from recently admixed populations show great variability in the number of variants, roughly proportional to the degree of recent African ancestry in their genomes. 4a, inset). Nature 467, 10611073 (2010), The 1000 Genomes Project Consortium. ), the Chinese 863 Program 2012AA02A201, the National Basic Research program of China 973 program no. The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Many thanks to the people who contributed to this project: P. Maul, T. Maul, and C. Foster; Z. Chong, X. Modelling the distribution of variation within and between genomes can provide insights about the history and demography of our ancestor populations14. Nature Genet. 8, e1002639 (2012), Chaisson, M. J. et al. Funding for this work was from the Wellcome Trust Core Award 090532/Z/09/Z and Senior Investigator Award 095552/Z/11/Z (P.D. Google Scholar As such, we estimate that improved rare variant discovery by deep sequencing our entire sample would at least double the total number of variants in our sample but increase the number of variants in a typical genome by only 20,000 to 60,000. ), WT095908 and WT109497 (P.F. The variation and evolution of complete human centromeres The squared correlation between imputed and experimental genotypes was >95% for common variants in each population, decreasing gradually with minor allele frequency (Fig. Faculty of Medical Sciences, Cave Hill Campus, The University of the West Indies. Journal. This provided a cost-effective means to discover genetic variants and estimate individual genotypes and haplotypes1,2. Although the number of characterized variants has more than doubled relative to phase 1, 2.3 million previously described variants are not included in the current analysis; most missing variants were rare or marked as low quality: 1.6 million had frequency <0.5% and may be missing from our current read set, while the remainder were removed by our filtering processes. Genetic Variation, Comparative Genomics, and the Diagnosis of Disease Here, we analyze 338 high-quality human . Justine Hospital Research Centre, Montreal, H3T 1C5, Quebec, Canada, Philip Awadalla (Principal Investigator)&Alan Hodgkinson, Department of Genetics, Department of Biostatistics, Department of Computer Science, University of Chapel Hill, North Carolina, 27599, USA, Department of Bioinformatics and Genomics, College of Computing and Informatics, University of North Carolina at Charlotte, 9201 University City Boulevard, Charlotte, 28223, North Carolina, USA, Xinghua Shi (Principal Investigator),Andrew Quitadamo,Xinghua Shi (Principal Investigator)&Andrew Quitadamo, Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands, Department of Biology, University of Puerto Rico at Mayagez, Mayagez, 00680, Puerto Rico, USA, Taras K. Oleksyk (Principal Investigator),Juan C. Martinez-Cruzado&Taras K. Oleksyk, Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, 84112, Utah, USA, Lynn Jorde (Principal Investigator),David Witherspoon,David Witherspoon&Lynn Jorde, Department of Genetics, Rutgers University, Piscataway, New Jersey, 08854, USA, Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, 98195, Washington, USA, Brian L. Browning (Principal Investigator), Department of Biostatistics, University of Washington, Seattle, 98195, Washington, USA, Sharon R. Browning (Principal Investigator). A global reference for human genetic variation | Nature N. Engl. We observed 762,000 variants that are rare (defined as having frequency <0.5%) within the global sample but much more common (>5% frequency) in at least one population (Fig. ), T32HL94284 (J.L.R.F. ), U01HG5728 (Y.X.F. 2). is a member of the scientific advisory board of Omicia, M.G. holds shares in Life Technologies, and G.M. To provide a measure of uncertainty, one curve is plotted for each chromosome. 1000 Genomes Project Consortium None., Auton A., Brooks LD., Durbin RM., Garrison EP., Kang HM., Korbel JO., Marchini JL., McCarthy S., McVean GA., Abecasis GR. 33, 7986 (2009), Wakefield, J. Commentary: genome-wide significance thresholds via Bayes factors. Nature Genet. ), R01HG5214 (G.A. Nature Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination . Variant discovery used an ensemble of 24 sequence analysis tools (Supplementary Table 2), and machine-learning classifiers to separate high-quality variants from potential false positives, balancing sensitivity and specificity. A pangenome reference representative of 36 minority Chinese - Nature ), the European Research Council grant 617306 (J.L.M. A global reference for human genetic variation - Harvard University volume526,pages 6874 (2015)Cite this article. is an advisor for DNAnexus, F.M.D.L.V. ), U01HG5214 (A.C.), U01HG5715 (C.D.B. Note the x axis shows the number of polymorphic sites within the maximal comparison. Although such ensemble analyses are cumbersome, they provide a benchmark for what can be achieved and a yardstick against which more practical analysis strategies can be evaluated. ADS We estimate the power to detect SNPs and indels to be >95% and >80%, respectively, for variants with sample frequency of at least 0.5%, rising to >99% and >85% for frequencies >1% (Extended Data Fig. Targeting resident cell-based repair; Aim 2. ), WT097307 (W.K. Nature 491 (7422), 56, 2012. ISSN 1476-4687 (online) This file contains Supplementary Methods, Supplementary References and Supplementary Tables 1-12. We imputed 17.0 million genetic variants with estimated R2 > 0.3, compared to 14.1 million variants using phase 1, and only 2.4 million SNPs using HapMap2. a, Imputation accuracy as a function of allele frequency for six populations. A global reference for human genetic variation The 1000 Genomes Project Consortium* The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. 47, 126131 (2015), Alexander, D. H., Novembre, J. The authors now report on the final phase of the project, phase 3, which covers previously uncharacterized areas of human genetic diversity in terms of the populations sampled and categories of characterized variation. Provided by the Springer Nature SharedIt content-sharing initiative. Mol. 4d), consistent with improved localization. Extended Data Figure 10 Decay of linkage disequilibrium as a function of physical distance. When we restricted analyses to the variants most likely to affect gene function, we found a typical genome contained 149182 sites with protein truncating variants, 10,000 to 12,000 sites with peptide-sequence-altering variants, and 459,000 to 565,000 variant sites overlapping known regulatory regions (untranslated regions (UTRs), promoters, insulators, enhancers, and transcription factor binding sites). 10, e1004528 (2014), Article Science 331, 920924 (2011), Chen, W. et al. ), Harvard Medical School Eleanor and Miles Shore Fellowship (K.L. A global reference for human genetic variation. Oxford Cardiovascular is a scientific advisor for BioNano Genomics, H.Y.K.L. are affiliated with Illumina, J.K.B. b, Performance of imputation from phase 3 by variant class. Nature Genet. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate. ), the Spanish National Institute for Health Research grant PRB2 IPT13/0001-ISCIII-SGEFI/FEDER (A.O. PLoS Genet. ), the Swiss National Science Foundation 31003A_130342 and NCCR Frontiers in Genetics (E.T.D. and JavaScript. Sudmant, P. H. et al. Large-scale whole-genome sequencing of the Icelandic population. 2b and Extended Data Fig. The UK10K project identifies rare variants in health and disease. The number of alleles associated with a disease or phenotype in each genome did not follow this pattern of increased diversity in Africa (Extended Data Fig. A global reference for human genetic variation. - SciSpace by Typeset Although most common variants are shared across the world, rarer variants are typically restricted to closely related populations (Fig. Proc. TL;DR: The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations, and has reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-generation sequencing,. ), the German Research Foundation (Deutsche Forschungsgemeinschaft) Emmy Noether Grant KO4037/1-1 (J.O.K. Nature, 526(7571), 68 . A global reference for human genetic variation - PubMed 10/2015. Extended Data Figure 7 Unsmoothed PSMC curves. a, Performance of imputation in 6 populations using a subset of phase 3 as a reference panel (n = 2,445), phase 1 (n = 1,065), and the corresponding data within intersecting samples from both phases (n = 1,006). Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a . a, Genotype covariance (above diagonal) and sharing of f2 variants (below diagonal) between pairs of individuals. The diagonal represents the percentage of eQTLs in TFBS using the original discovery sample. Nature Genet. ), and contracts HHSN268201100040C (A.M.R.) Genome Res. Keywords. Abstract. The 1000 Genomes Project has sought to comprehensively catalogue human genetic variation across populations, providing a valuable public genomic resource. Department of Physiology and Biophysics, Weill Cornell Medical College, New York, New York 10065, USA, Ekta Khurana (Principal Investigator),Ekta Khurana (Principal Investigator)&Ekta Khurana (Principal Investigator), Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, GA Nijmegen, 6525, The Netherlands, Department of Molecular Developmental Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University, Nijmegen, 6500, HB, The Netherlands, Institute of Genetics and Biophysics, National Research Council (CNR), Naples, 80125, Italy, Program in Computational Biology and Bioinformatics, Yale University, New Haven, 06520, Connecticut, USA, Mark B. Gerstein (Principal Investigator),Jieming Chen,Yao Fu,Arif O. Harmanci,Donghoon Lee,Xinmeng Jasmine Mu,Jing Zhang,Yan Zhang,Mark B. Gerstein (Principal Investigator),Jieming Chen,Xinmeng Jasmine Mu,Cristina Sisu,Jing Zhang,Yan Zhang,Mark B. Gerstein (Principal Investigator),Lukas Habegger,Mark B. Gerstein (Principal Investigator) (Co-Chair)&Yao Fu, Department of Computer Science, Yale University, New Haven, 06520, Connecticut, USA, Mark B. Gerstein (Principal Investigator),Mark B. Gerstein (Principal Investigator),Mark B. Gerstein (Principal Investigator)&Mark B. Gerstein (Principal Investigator) (Co-Chair), Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, 06520, Connecticut, USA, Mark B. Gerstein (Principal Investigator),Suganthi Balasubramanian,Mike Jin,Jeremy Liu,Jing Zhang,Yan Zhang,Mark B. Gerstein (Principal Investigator),Jing Zhang,Yan Zhang,Mark B. Gerstein (Principal Investigator),Suganthi Balasubramanian,Mark B. Gerstein (Principal Investigator) (Co-Chair),Suganthi Balasubramanian&Donghoon Kim, Department of Health Sciences Research, Mayo Clinic, Rochester, 55905, Minnesota, USA, Department of Chemistry, Yale University, New Haven, 06520, Connecticut, USA, Department of Medical Statistics and Bioinformatics, Molecular Epidemiology Section, Leiden University Medical Center, 2333, ZA, The Netherlands, Department of Computer Science, University of California, San Diego, La Jolla, 92093, California, USA, Beyster Center for Genomics of Psychiatric Diseases, University of California, San Diego, La Jolla, 92093, California, USA, Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, 77230, Texas, USA, Ken Chen (Principle Investigator),Xian Fan,Zechen Chong&Tenghui Chen, Bina Technologies, Roche Sequencing, Redwood City, 94065, California, USA, Department of Surgery, Massachusetts General Hospital, Boston, 02114, Massachusetts, USA, Kasper Lage (Principal Investigator),Jakob Berg Jespersen&Heiko Horn, Department of Systems Biology, Center for Biological Sequence Analysis, Technical University of Denmark, Kemitorvet Building 208, Lyngby, 2800, Denmark, Sackler Institute for Comparative Genomics, American Museum of Natural History, New York, 10024, New York, USA, Department of Invertebrate Zoology, American Museum of Natural History, New York, 10024, New York, USA, School of Life Sciences, Arizona State University, Tempe, 85287-4701, Arizona, USA, Program in Biomedical Informatics, Stanford University, Stanford, 94305, California, USA, Institute for Molecular Bioscience, University of Queensland, St Lucia, QLD 4072, Australia, Lachlan Coin (Principal Investigator)&Haojing Shao, Virginia Bioinformatics Institute, 1015 Life Sciences Drive, Blacksburg, 24061, Virginia, USA, Division of Allergy and Clinical Immunology, School of Medicine, Johns Hopkins University, Baltimore, 21205, Maryland, USA, Department of Ecology and Evolution, Stony Brook University, Stony Brook, 11794, New York, USA, Centre for Health, Law and Emerging Technologies, University of Oxford, Oxford, OX3 7LF, UK, Nuffield Department of Population Health, The Ethox Center, University of Oxford, Old Road Campus, OX3 7LF, UK, Johns Hopkins University School of Medicine, Baltimore, 21205, Maryland, USA, Department of Medical History and Bioethics, Morgridge Institute for Research, University of Wisconsin-Madison, Madison, 53706, Wisconsin, USA, University of Wisconsin Law School, Madison, 53706, Wisconsin, USA, US National Institutes of Health, Center for Research on Genomics and Global Health, National Human Genome Research Institute, 12 South Drive, Bethesda, 20892, Maryland, USA, Department of African & African American Studies, Duke University, Durham, North, 27708, Carolina, USA, Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, 19104, Pennsylvania, USA, Department of Psychiatry and Clinical Psychobiology & Institute for Brain, Cognition and Behavior (IR3C), University of Barcelona, Barcelona, 08035, Spain, Cancer and Immunogenetics Laboratory, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK, Laboratory of Molecular Genetics, Institute of Biology, University of Antioquia, Medelln, Colombia, Peking University Shenzhen Hospital, Shenzhen, 518036, China, Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union Medical College, Kunming, 650118, China, Instituto de Biologia Molecular y Celular del Cancer, Centro de Investigacion del Cancer/IBMCC (CSIC-USAL), Institute of Biomedical Research of Salamanca (IBSAL) & National DNA Bank Carlos III, University of Salamanca, Salamanca, 37007, Spain, Ponce Research Institute, Ponce Health Sciences University, Ponce, 00716, Puerto Rico.
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