Selected Preprints

• Tang D, Kamitaki N, Si Y, Sexton CE, Feng WC, Veit AD, Chun HE, Park PJ, Loh PR. Recurrent mitotic error and purifying selection shape chromosomal mosaicism across human tissues. bioRxiv (2026).
• Si Y*, Kamitaki N*, Tang D, Loh PR. Genetic mechanisms of mitotic error in 840,853 blood genomes. medRxiv (2026).

Selected Publications

• Tang D, Kamitaki N, Mukamel RE, Rubinacci S, Loh PR. Patterns and drivers of 43,617 mosaic chromosomal alterations in blood. Nature Genetics (2026).
• Kamitaki N, Tang D, McCarroll SA, Loh PR. The DNA virome varies with human genes and environments. Nature (2026).
• Kamitaki N, Handsaker RE, Hujoel MLA, Mukamel RE, Usher CL, McCarroll SA, Loh PR. Human and bacterial genetic variation shape oral microbiomes and health. Nature (2026).
• Hujoel MLA, Handsaker RE, Tang D, Kamitaki N, Mukamel RE, Rubinacci S, Palamara PF, McCarroll SA, Loh PR. Insights into DNA repeat expansions among 900,000 biobank participants. Nature (2026).
• Kamitaki N, Hujoel MLA, Mukamel RE, Gebara E, McCarroll SA, Loh PR. A sequence of SVA retrotransposon insertions in ASIP shaped human pigmentation. Nature Genetics (2024).
• Hujoel MLA, Handsaker RE, Sherman MA, Kamitaki N, Barton AR, Mukamel RE, Terao C, McCarroll SA, Loh PR. Protein-altering variants at copy number-variable regions influence diverse human phenotypes. Nature Genetics (2024).
• Mukamel RE*, Handsaker RE*, Sherman MA, Barton AR, Hujoel MLA, McCarroll SA**, Loh PR**. Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer. Cell (2023).
• 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).
• 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).
• 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).
• 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).
• 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).
• 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).
• Loh PR, Genovese G, McCarroll SA. Monogenic and polygenic inheritance become instruments for clonal selection. Nature (2020).
• 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).
• 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).
• Loh PR, Kichaev G, Gazal S, Schoech AP, Price AL. Mixed-model association for biobank-scale datasets. Nature Genetics (2018).
• 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).
• Loh PR, Palamara PF, Price AL. Fast and accurate long-range phasing in a UK Biobank cohort. Nature Genetics (2016).
• 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).
• 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).
• 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).
• Loh PR*, Baym M*, Berger B. Compressive genomics. Nature Biotechnology (2012).

For a full list of publications, see Google Scholar or NIH/NCBI My Bibliography.

PDFs of publications through 2023 are available from our old lab website.