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Influences of rare copy-number variation on human complex traits

Publication: Journal Article

Hujoel, Margaux LA, Maxwell Sherman, Alison Barton, Ronen Mukamel, Vijay Sankaran, Chikashi Terao, and Po-Ru Loh. 2022. “Influences of Rare Copy-Number Variation on Human Complex Traits”. Cell 185 (22): 4233-4248.e27.

Po-Ru Loh receives 2022 ISCB Overton Prize

News: 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. A big thank-you to all of the mentors, collaborators, and trainees who contributed to the work...

Incorporating family history of disease improves polygenic risk scores in diverse populations

Publication: Journal Article

Hujoel, Margaux LA, Po-Ru Loh, Benjamin Neale, and Alkes Price. 2022. “Incorporating Family History of Disease Improves Polygenic Risk Scores in Diverse Populations”. Cell Genom 2 (7): 100152.

Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions

Publication: Journal Article

Genovese, Giulio, Curtis Mello, Po-Ru Loh, Robert Handsaker, Seva Kashin, Christopher Whelan, Lucy Bayer-Zwirello, and Steven McCarroll. 2022. “Chromosomal Phase Improves Aneuploidy Detection in Non-Invasive Prenatal Testing at Low Fetal DNA Fractions”. Sci Rep 12 (1): 12025.

Genome-wide mapping of somatic mutation rates uncovers drivers of cancer

Publication: Journal Article

Sherman, Maxwell A, Adam Yaari, Oliver Priebe, Felix Dietlein, Po-Ru Loh, and Bonnie Berger. 2022. “Genome-Wide Mapping of Somatic Mutation Rates Uncovers Drivers of Cancer”. Nat Biotechnol.

Alison Barton receives her PhD

News: 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. Congratulations, Alison!

Maxwell Sherman receives his PhD

News: November 18, 2022

Maxwell Sherman has completed MIT's Electrical Engineering and Computer Science (EECS) PhD program and is moving on to Serinus Biosciences, which he co-founded earlier this year. Congratulations, Max!

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.