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  4. September 2020

News

New preprint on exome imputation and fine-mapping in UK Biobank

September 01, 2020
We are excited to share a new preprint, "Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses" (Barton et al.), which reports an atlas of 1,189...
Read More New preprint on exome imputation and fine-mapping in UK Biobank

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Latest News

  • Paper on spectrum of recessiveness among Mendelian disease variants published in AJHG

    May 31, 2022
    Alison Barton's paper on mitigated phenotypes observed in carriers of recessive disease variants (Barton et al. 2022 AJHG) is now published -- congratulations, Alison! This work leveraged whole-exome...
    Read More Paper on spectrum of recessiveness among Mendelian disease variants published in AJHG
  • Alison Barton receives her PhD

    May 27, 2022
    Alison Barton has graduated from the Harvard Medical School Bioinformatics and Integrative Genomics (BIG) PhD program and will be moving on to a postdoc in population genetics with David Reich...
    Read More Alison Barton receives her PhD
  • Talk on haplotype-informed CNV analysis at ProbGen 2022

    March 16, 2022
    At the 2022 Probabilistic Modeling in Genomics (ProbGen) conference, Margaux Hujoel will be presenting her work on haplotype-informed CNV detection and subsequent association and fine-mapping analysis...
    Read More Talk on haplotype-informed CNV analysis at ProbGen 2022
  • Po-Ru Loh receives 2022 ISCB Overton Prize

    February 19, 2022
    Po-Ru Loh has been awarded the International Society for Computational Biology's Overton Prize for outstanding accomplishment by an early to mid-career scientist in the field of computational biology...
    Read More Po-Ru Loh receives 2022 ISCB Overton Prize
  • New preprint on phenotypes observed in carriers of recessive disease variants

    December 14, 2021
    We are excited to share a new preprint, "A spectrum of recessiveness among Mendelian disease variants in UK Biobank" (Barton et al.), which leverages whole-exome sequencing together with imputation in...
    Read More New preprint on phenotypes observed in carriers of recessive disease variants
  • New preprint on phenotypic impacts of rare copy number variants

    October 22, 2021
    We are excited to share a new preprint, "Influences of rare copy number variation on human complex traits" (Hujoel et al.), which explores the phenotypic impact of rare copy number variation in the...
    Read More New preprint on phenotypic impacts of rare copy number variants
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