Heng Li studies advanced computational algorithms to solve practical biological problems, currently with a focus on sequence alignment, variant calling, de novo assembly, data storage, and information query. He developed and maintains several widely used software packages, such as BWA, samtools, minimap2, and seqtk, for analyzing high-throughput sequencing data. He has also collaborated with multiple research groups and published work on the analysis of single-cell sequence data, chromosome conformation, cancer genomics, population genetics and species evolution.
DBMI Research Areas
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations.
Authors: Mallick S, Li H, Lipson M, Mathieson I, Gymrek M, Racimo F, Zhao M, Chennagiri N, Nordenfelt S, Tandon A, Skoglund P, Lazaridis I, Sankararaman S, Fu Q, Rohland N, Renaud G, Erlich Y, Willems T, Gallo C, Spence JP, Song YS, Poletti G, Balloux F, van Driem G, de Knijff P, Romero IG, Jha AR, Behar DM, Bravi CM, Capelli C, Hervig T, Moreno-Estrada A, Posukh OL, Balanovska E, Balanovsky O, Karachanak-Yankova S, Sahakyan H, Toncheva D, Yepiskoposyan L, Tyler-Smith C, Xue Y, Abdullah MS, Ruiz-Linares A, Beall CM, Di Rienzo A, Jeong C, Starikovskaya EB, Metspalu E, Parik J, Villems R, Henn BM, Hodoglugil U, Mahley R, Sajantila A, Stamatoyannopoulos G, Wee JT, Khusainova R, Khusnutdinova E, Litvinov S, Ayodo G, Comas D, Hammer MF, Kivisild T, Klitz W, Winkler CA, Labuda D, Bamshad M, Jorde LB, Tishkoff SA, Watkins WS, Metspalu M, Dryomov S, Sukernik R, Singh L, Thangaraj K, Pääbo S, Kelso J, Patterson N, Reich D.
Nature
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Nature
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Minimap and miniasm: fast mapping and de novo assembly for noisy long sequences.
BGT: efficient and flexible genotype query across many samples.
The contribution of rare variation to prostate cancer heritability.
Authors: Mancuso N, Rohland N, Rand KA, Tandon A, Allen A, Quinque D, Mallick S, Li H, Stram A, Sheng X, Kote-Jarai Z, Easton DF, Eeles RA, Le Marchand L, Lubwama A, Stram D, Watya S, Conti DV, Henderson B, Haiman CA, Pasaniuc B, Reich D.
Nat Genet
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Nat Genet
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FermiKit: assembly-based variant calling for Illumina resequencing data.
A global reference for human genetic variation.
Authors: Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR.
Nature
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Nature
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BFC: correcting Illumina sequencing errors.
Complete genomes reveal signatures of demographic and genetic declines in the woolly mammoth.
Authors: Palkopoulou E, Mallick S, Skoglund P, Enk J, Rohland N, Li H, Omrak A, Vartanyan S, Poinar H, Götherström A, Reich D, Dalén L.
Curr Biol
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Curr Biol
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No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans.
Authors: Do R, Balick D, Li H, Adzhubei I, Sunyaev S, Reich D.
Nat Genet
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Nat Genet
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Fast construction of FM-index for long sequence reads.