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143 results found

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

Publication: Journal Article

Finucane, Hilary, Yakir A Reshef, Verneri Anttila, Kamil Slowikowski, Alexander Gusev, Andrea Byrnes, Steven Gazal, et al. 2018. “Heritability Enrichment of Specifically Expressed Genes Identifies Disease-Relevant Tissues and Cell Types”. Nat Genet 50 (4): 621-29.

Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection

Publication: Journal Article

Gazal, Steven, Hilary Finucane, Nicholas Furlotte, Po-Ru Loh, Pier Francesco Palamara, Xuanyao Liu, Armin Schoech, et al. 2017. “Linkage Disequilibrium-Dependent Architecture of Human Complex Traits Shows Action of Negative Selection”. Nat Genet 49 (10): 1421-27.

Annotations capturing cell-type-specific TF binding explain a large fraction of disease heritability

Publication: Journal Article

Geijn, Bryce, Hilary Finucane, Steven Gazal, Farhad Hormozdiari, Tiffany Amariuta, Xuanyao Liu, Alexander Gusev, et al. 2019. “Annotations Capturing Cell-Type-Specific TF Binding Explain a Large Fraction of Disease Heritability”. Hum Mol Genet.

Large mosaic copy number variations confer autism risk

Publication: Journal Article

Sherman, Maxwell A, Rachel Rodin, Giulio Genovese, Caroline Dias, Alison Barton, Ronen Mukamel, Bonnie Berger, Peter Park, Christopher Walsh, and Po-Ru Loh. 2021. “Large Mosaic Copy Number Variations Confer Autism Risk”. Nat Neurosci 24 (2): 197-203.

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.

Haplotype-aware analysis of somatic copy number variations from single-cell transcriptomes

Publication: Journal Article

Gao, Teng, Ruslan Soldatov, Hirak Sarkar, Adam Kurkiewicz, Evan Biederstedt, Po-Ru Loh, and Peter Kharchenko. 2022. “Haplotype-Aware Analysis of Somatic Copy Number Variations from Single-Cell Transcriptomes”. Nat Biotechnol.

A spectrum of recessiveness among Mendelian disease variants in UK Biobank

Publication: Journal Article

Barton, Alison R, Margaux Hujoel, Ronen Mukamel, Maxwell Sherman, and Po-Ru Loh. 2022. “A Spectrum of Recessiveness Among Mendelian Disease Variants in UK Biobank”. Am J Hum Genet 109 (7): 1298-1307.

A saturated map of common genetic variants associated with human height

Publication: Journal Article

Yengo, Loic, Sailaja Vedantam, Eirini Marouli, Julia Sidorenko, Eric Bartell, Saori Sakaue, Marielisa Graff, et al. 2022. “A Saturated Map of Common Genetic Variants Associated With Human Height”. Nature.

Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses

Publication: Journal Article

Barton, Alison R, Maxwell Sherman, Ronen Mukamel, and Po-Ru Loh. 2021. “Whole-Exome Imputation Within UK Biobank Powers Rare Coding Variant Association and Fine-Mapping Analyses”. Nat Genet 53 (8): 1260-69.

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.