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New preprint on mosaic copy number variants in autism

News: January 28, 2020

We are excited to share a new preprint, " Large mosaic copy number variations confer autism risk" (Sherman et al.), reporting mosaic CNVs we identified in genotyping data from the Simons Simplex Collection. We demonstrate a significant burden of large (>4 Mb) mosaic CNVs in ASD probands compared to...

Chromosomal alterations among age-related haematopoietic clones in Japan

Publication: Journal Article

Terao, Chikashi, Akari Suzuki, Yukihide Momozawa, Masato Akiyama, Kazuyoshi Ishigaki, Kazuhiko Yamamoto, Koichi Matsuda, et al. 2020. “Chromosomal Alterations Among Age-Related Haematopoietic Clones in Japan”. Nature 584 (7819): 130-35.

Two clonal hematopoiesis papers published in Nature

News: June 24, 2020

Our papers exploring mosaic chromosomal alterations in UK Biobank ( N~500K; Loh et al. 2020 Nature) and BioBank Japan ( N~200K; Terao et al. 2020 Nature) are now online at Nature. Highlights of these studies include discovery of several new risk loci at which acquired mutations systematically...

Genetically predicted telomere length is associated with clonal somatic copy number alterations in peripheral leukocytes

Publication: Journal Article

Brown, Derek, Shu-Hong Lin, Po-Ru Loh, Stephen Chanock, Sharon Savage, and Mitchell Machiela. 2020. “Genetically Predicted Telomere Length Is Associated With Clonal Somatic Copy Number Alterations in Peripheral Leukocytes”. PLoS Genet 16 (10): e1009078.

Margaux L.A. Hujoel

Person: Postdoctoral Fellow, Harvard Medical School

Margaux completed a B.S. in Mathematical and Computational Biology at Harvey Mudd and a Ph.D. in Biostatistics at the Harvard T.H. Chan School of Public Health. Margaux's research focuses on developing novel methods to better understand the genetic architecture of disease and complex traits.

Margaux Hujoel has joined the lab!

News: June 29, 2020

Margaux is a postdoctoral fellow at BWH / HMS and will be developing methods for investigating the genetic architecture of complex traits and diseases. Welcome, Margaux!

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

News: 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 rare coding variants likely to causally influence 54 quantitative traits in UK Biobank. This analysis...

Liability threshold modeling of case-control status and family history of disease increases association power

Publication: Journal Article

Hujoel, Margaux, Steven Gazal, Po-Ru Loh, Nick Patterson, and Alkes Price. 2020. “Liability Threshold Modeling of Case-Control Status and Family History of Disease Increases Association Power”. Nat Genet 52 (5): 541-47.

Monogenic and polygenic inheritance become instruments for clonal selection

Publication: Journal Article

Loh, Po-Ru, Giulio Genovese, and Steven McCarroll. 2020. “Monogenic and Polygenic Inheritance Become Instruments for Clonal Selection”. Nature 584 (7819): 136-41.

Data

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CNV-phenotype associations for 56 quantitative traits in UK Biobank Hujoel et al. 2022 CellThis data set contains full association statistics from BOLT-LMM analysis of categories of CNVs called in the UK Biobank cohort using HI-CNV to perform haplotype-informed CNV detection from SNP-array...