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Showing 1–28 of 28 results
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  • Genetic studies of individuals from geographically diverse human populations provide insights into the dispersal of modern humans across the globe and how geography shaped genomic variation. See Articles p.201 & p.207 & Letter p.238

    • Serena Tucci
    • Joshua M. Akey
    News & Views
    Nature
    Volume: 538, P: 179-180
  • Resequencing of genes from individuals of European and African American ancestry indicates that approximately 73% of all protein-coding SNVs and approximately 86% of SNVs predicted to be deleterious arose in the past 5,000–10,000 years, and that European Americans carry an excess of deleterious variants in essential and Mendelian disease genes compared to African Americans.

    • Wenqing Fu
    • Timothy D. O’Connor
    • Joshua M. Akey
    Research
    Nature
    Volume: 493, P: 216-220
  • The goals, resources and design of the NHLBI Trans-Omics for Precision Medicine (TOPMed) programme are described, and analyses of rare variants detected in the first 53,831 samples provide insights into mutational processes and recent human evolutionary history.

    • Daniel Taliun
    • Daniel N. Harris
    • Gonçalo R. Abecasis
    ResearchOpen Access
    Nature
    Volume: 590, P: 290-299
  • An extensive map of human DNase I hypersensitive sites, markers of regulatory DNA, in 125 diverse cell and tissue types is described; integration of this information with other ENCODE-generated data sets identifies new relationships between chromatin accessibility, transcription, DNA methylation and regulatory factor occupancy patterns.

    • Robert E. Thurman
    • Eric Rynes
    • John A. Stamatoyannopoulos
    ResearchOpen Access
    Nature
    Volume: 489, P: 75-82
  • Using the GTEx data and others, a comprehensive analysis of adenosine-to-inosine RNA editing in mammals is presented; targets of the various ADAR enzymes are identified, as are several potential regulators of editing, such as AIMP2.

    • Meng How Tan
    • Qin Li
    • Jin Billy Li
    Research
    Nature
    Volume: 550, P: 249-254
  • The authors show that rare genetic variants contribute to large gene expression changes across diverse human tissues and provide an integrative method for interpretation of rare variants in individual genomes.

    • Xin Li
    • Yungil Kim
    • Stephen B. Montgomery
    ResearchOpen Access
    Nature
    Volume: 550, P: 239-243
  • Multiple transcriptome approaches, including single-cell sequencing, demonstrate that escape from X chromosome inactivation is widespread and occasionally variable between cells, chromosomes, and tissues, resulting in sex-biased expression of at least 60 genes and potentially contributing to sex-specific differences in health and disease.

    • Taru Tukiainen
    • Alexandra-Chloé Villani
    • Daniel G. MacArthur
    ResearchOpen Access
    Nature
    Volume: 550, P: 244-248
  • The Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA) aims to better understand population genetics of the African diaspora. Here, it uses deeply sequenced whole-genomes to describe the impact of admixture and potential disease burden of deleterious variants.

    • Rasika Ann Mathias
    • Margaret A. Taub
    • Kathleen C. Barnes
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-10
  • The rapid accumulation and increasing quality of human DNA sequence-variation data brought about by advances in genome-scale sequencing present opportunities to investigate human evolution. The authors discuss the statistical methods and models that can be used to gain insight into the evolution of human populations from analyses of large-scale genomic data sets, as well as the challenges associated with these approaches.

    • Joshua G. Schraiber
    • Joshua M. Akey
    Reviews
    Nature Reviews Genetics
    Volume: 16, P: 727-740
  • Exome sequencing on a large cohort of parent–child trios with sporadic autism spectrum disorders shows that de novo point mutations are mainly paternal in origin and positively correlate with paternal age, and identifies a highly interconnected network formed from the products of the most severe mutations.

    • Brian J. O’Roak
    • Laura Vives
    • Evan E. Eichler
    Research
    Nature
    Volume: 485, P: 246-250
  • This overview of the ENCODE project outlines the data accumulated so far, revealing that 80% of the human genome now has at least one biochemical function assigned to it; the newly identified functional elements should aid the interpretation of results of genome-wide association studies, as many correspond to sites of association with human disease.

    • Ian Dunham
    • Anshul Kundaje
    • Ewan Birney
    ResearchOpen Access
    Nature
    Volume: 489, P: 57-74
  • Samples of different body regions from hundreds of human donors are used to study how genetic variation influences gene expression levels in 44 disease-relevant tissues.

    • François Aguet
    • Andrew A. Brown
    • Jingchun Zhu
    ResearchOpen Access
    Nature
    Volume: 550, P: 204-213
  • High-coverage sequencing of 79 (wild and captive) individuals representing all six non-human great ape species has identified over 88 million single nucleotide polymorphisms providing insight into ape genetic variation and evolutionary history and enabling comparison with human genetic diversity.

    • Javier Prado-Martinez
    • Peter H. Sudmant
    • Tomas Marques-Bonet
    ResearchOpen Access
    Nature
    Volume: 499, P: 471-475
  • Personalized medicine requires accurate and ethnicity-optimized reference genome panels. Here, the Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA) evaluates typical variant filters and existing genome databases against newly sequenced African-ancestry populations.

    • Michael D. Kessler
    • Laura Yerges-Armstrong
    • Timothy D. O’Connor
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-8
  • Phenotypic variation and diseases are influenced by factors such as genetic variants and gene expression. Here, Barbeira et al. develop S-PrediXcan to compute PrediXcan results using summary data, and investigate the effects of gene expression variation on human phenotypes in 44 GTEx tissues and >100 phenotypes.

    • Alvaro N. Barbeira
    • Scott P. Dickinson
    • Hae Kyung Im
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-20
  • The Dog Aging Project is an open-data, community science study to identify genetic, environmental and lifestyle factors associated with canine healthy lifespan, generating knowledge that could readily translate to human ageing.

    • Kate E. Creevy
    • Joshua M. Akey
    • Benjamin S. Wilfond
    Reviews
    Nature
    Volume: 602, P: 51-57
  • Genetic variants have been associated with myriad molecular phenotypes that provide new insight into the range of mechanisms underlying genetic traits and diseases. Identifying any particular genetic variant's cascade of effects, from molecule to individual, requires assaying multiple layers of molecular complexity. We introduce the Enhancing GTEx (eGTEx) project that extends the GTEx project to combine gene expression with additional intermediate molecular measurements on the same tissues to provide a resource for studying how genetic differences cascade through molecular phenotypes to impact human health.

    • Barbara E Stranger
    • Lori E Brigham
    • Stephen B Montgomery
    Comments & Opinion
    Nature Genetics
    Volume: 49, P: 1664-1670