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Showing 1–17 of 17 results
Advanced filters: Author: Yaniv Erlich Clear advanced filters

  • Yaniv Erlich and colleagues report a genome-wide survey of the contribution of short tandem repeats (STRs) to gene expression in humans and identify 2,060 significant expression STRs (eSTRs). They find that eSTRs contribute 10–15% of the cis heritability mediated by all common variants and are associated with various clinically relevant phenotypes.

    • Melissa Gymrek
    • Thomas Willems
    • Yaniv Erlich
    Research
    Nature Genetics
    Volume: 48, P: 22-29

  • 23andMe’s bankruptcy serves as a moment of reflection for the direct-to-consumer (DTC) genomics industry. We analyzed 23andMe financial data and business practices to reveal the factors behind the fall of the company, once valued at US $6 billion and now being considered for acquisition by Regeneron for merely $250 million. Key challenges faced by 23andMe in monetizing its genomic data reveal that this information, at least in a typical DTC setting, is simply not worth that much.

    • Yaniv Erlich
    • Dina Zielinski
    Comments & Opinion
    Nature Biotechnology
    Volume: 43, P: 854-856

  • Melissa Gymrek and colleagues estimate mutation parameters for each short tandem repeat (STR) in the human genome. They find that local sequence features impact these estimates and they create a framework for measuring constraint at STRs by comparing observed and expected mutation rates, providing a tool for prioritizing pathogenic variants.

    • Melissa Gymrek
    • Thomas Willems
    • Yaniv Erlich
    Research
    Nature Genetics
    Volume: 49, P: 1495-1501

  • Data sharing in genetics is essential to ensure research progress. However, concerns about the impact on privacy of data originators have been raised. This Review summarizes privacy breaching strategies and potential mitigation methods for privacy-preserving dissemination of sensitive data, and highlights different cases that are relevant to genetic applications.

    • Yaniv Erlich
    • Arvind Narayanan
    Reviews
    Nature Reviews Genetics
    Volume: 15, P: 409-421

  • Deep whole-genome sequencing of 300 individuals from 142 diverse populations provides insights into key population genetic parameters, shows that all modern human ancestry outside of Africa including in Australasians is consistent with descending from a single founding population, and suggests a higher rate of accumulation of mutations in non-Africans compared to Africans since divergence.

    • Swapan Mallick
    • Heng Li
    • David Reich
    Research
    Nature
    Volume: 538, P: 201-206

  • Results for the final phase of the 1000 Genomes Project are presented including whole-genome sequencing, targeted exome sequencing, and genotyping on high-density SNP arrays for 2,504 individuals across 26 populations, providing a global reference data set to support biomedical genetics.

    • Adam Auton
    • Gonçalo R. Abecasis
    • Gonçalo R. Abecasis
    ResearchOpen Access
    Nature
    Volume: 526, P: 68-74

  • Chris Tyler-Smith, Carlos Bustamante and colleagues report an analysis of 1,244 human Y chromosomes from the 1000 Genomes Project. They find that copy number variants have a higher predicted functional impact than other variant classes and infer bursts of male population expansion corresponding to historical periods of migration and technological innovations.

    • G David Poznik
    • Yali Xue
    • Chris Tyler-Smith
    Research
    Nature Genetics
    Volume: 48, P: 593-599

  • Jimmy Liu and colleagues perform genome-wide association by proxy (GWAX) in a large population cohort by replacing cases with their first-degree relatives. They apply GWAX to 12 common diseases and show its utility by identifying new risk loci for Alzheimer's disease, coronary artery disease and type 2 diabetes.

    • Jimmy Z Liu
    • Yaniv Erlich
    • Joseph K Pickrell
    Research
    Nature Genetics
    Volume: 49, P: 325-331