News | Loh Lab

Two talks and two posters at ProbGen 2021

April 16, 2021

Our lab attended the Probabilistic Modeling in Genomics (ProbGen) 2021 virtual conference. Alison Barton and Maxwell Sherman spoke about their work on whole-exome imputation in UK Biobank (Alison) and...

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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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