Selected Preprints

Mukamel RE*, Handsaker RE*, Sherman MA, Barton AR, Hujoel MLA, McCarroll SA**, Loh PR**. Repeat polymorphisms in non-coding DNA underlie top genetic risk loci for glaucoma and colorectal cancer. medRxiv (2022). [pdf + supp]

Selected Publications

Hujoel MLA, Sherman MA, Barton AR, Mukamel RE, Sankaran VG, Terao C, Loh PR. Influences of rare copy number variation on human complex traits. Cell (2022). [pdf]

Sherman MA*, Yaari AU*, Priebe O*, Dietlein F, Loh PR**, Berger B**. Genome-wide mapping of somatic mutation rates uncovers drivers of cancer. Nature Biotechnology (2022). [pdf + supp]

Barton AR, Hujoel MLA, Mukamel RE, Sherman MA, Loh PR. A spectrum of recessiveness among Mendelian disease variants in UK Biobank. American Journal of Human Genetics (2022). [pdf + supp]

Mukamel RE*, Handsaker RE*, Sherman MA, Barton AR, Zheng Y, McCarroll SA**, Loh PR**. Protein-coding repeat polymorphisms strongly shape diverse human phenotypes. Science (2021). [pdf + supp]

Barton AR, Sherman MA, Mukamel RE, Loh PR. Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses. Nature Genetics (2021). [pdf + supp]

Sherman MA, Rodin RE, Genovese G, Dias C, Barton AR, Mukamel RE, Berger B, Park PJ**, Walsh CA**, Loh PR**. Large mosaic copy number variations confer autism risk. Nature Neuroscience (2021). [pdf + supp]

Loh PR, Genovese G, McCarroll SA. Monogenic and polygenic inheritance become instruments for clonal selection. Nature (2020). [pdf + supp + bioRxiv supp (with figs)]

Terao C, Suzuki A, Momozawa Y, Akiyama M, Ishigaki K, Yamamoto K, Matsuda K, Murakami Y, McCarroll SA, Kubo M, Loh PR**, Kamatani Y**. The genomic landscape of clonal hematopoiesis in Japan. Nature (2020). [pdf + supp + bioRxiv supp (with figs)]

Loh PR*, Genovese G*, Handsaker RE, Finucane HK, Reshef YA, Francesco PF, Birmann BM, Talkowski ME, Bakhoum SF, McCarroll SA, Price AL. Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations. Nature (2018). [pdf + supp]

Loh PR, Kichaev G, Gazal S, Schoech AP, Price AL. Mixed-model association for biobank-scale datasets. Nature Genetics (2018). [pdf + supp]

Loh PR, Danecek P, Palamara PF, Fuchsberger C, Reshef YA, Finucane HK, Schoenherr S, Forer L, McCarthy S, Abecasis GR, Durbin R, Price AL. Reference-based phasing using the Haplotype Reference Consortium panel. Nature Genetics (2016). [pdf + supp]

Loh PR, Palamara PF, Price AL. Fast and accurate long-range phasing in a UK Biobank cohort. Nature Genetics (2016). [pdf + supp]

Loh PR, Bhatia G, Gusev A, Finucane HK, Bulik-Sullivan BK, Pollack SJ, Schizophrenia Working Group of the Psychiatric Genomics Consortium, de Candia T, Lee SH, Wray NR, Kendler KS, O’Donovan MC, Neale BM, Patterson N, Price AL. Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance components analysis. Nature Genetics (2015). [pdf + supp]

Loh PR, Tucker G, Bulik-Sullivan BK, Vilhjalmsson BJ, Finucane HK, Salem RM, Chasman DI, Ridker PM, Neale BM, Berger B, Patterson N, Price AL. Efficient Bayesian mixed model analysis increases association power in large cohorts. Nature Genetics (2015). [pdf + supp]

Loh PR*, Lipson M*, Patterson N, Moorjani P, Pickrell J, Reich D, Berger B. Inferring Admixture Histories of Human Populations Using Linkage Disequilibrium. Genetics (2013). [pdf + supp]

Loh PR*, Baym M*, Berger B. Compressive genomics. Nature Biotechnology (2012). [pdf + supp]