Photo of Heng Li, PhD

Heng Li, PhD

Dana-Farber Cancer Institute

Dana-Farber Cancer Institute


hli@jimmy.harvard.edu

Photo of Heng Li, PhD

Dana-Farber Cancer Institute


hli@jimmy.harvard.edu

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Heng Li, PhD

Dana-Farber Cancer Institute

EDUCATIONAL TITLES

  • Associate Professor, Biomedical Informatics, Harvard Medical School
  • Assistant professor, Biostatistics and Computational Biology, Dana-Farber Cancer Institute

HCC PROGRAM AFFILIATION

Research Abstract

My lab develops advanced computational algorithms to perform sequence alignment, sequence assembly and mutation discovery. We have extended expertises in the analysis of whole-genome sequencing, Hi-C and single-cell data. We are interested in applying these computational skills to cancer genomics data to improve the accuracy of point and structural mutation calling and to study the mosaic of cancer cells.

Publications from Harvard Catalyst Profiles

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  • Qin Q, Li H. Challenges in structural variant calling in low-complexity regions. Gigascience 2025. PubMed
  • Coorens THH, Oh JW, Choi YA, Lim NS, Zhao B, Voshall A, Abyzov A, Antonacci-Fulton L, Aparicio S, Ardlie KG, Bell TJ, Bennett JT, Bernstein BE, Blanchard TG, Boyle AP, Buenrostro JD, Burns KH, Chen F, Chen R, Choudhury S, Doddapaneni HV, Eichler EE, Evrony GD, Faith MA, Fazzio TG, Fulton RS, Garber M, Gehlenborg N, Germer S, Getz G, Gibbs RA, Hernandez RG, Jin F, Korbel JO, Landau DA, Lawson HA, Lennon NJ, Li H, Li Y, Loh PR, Marth G, McConnell MJ, Mills RE, Montgomery SB, Natarajan P, Park PJ, Satija R, Sedlazeck FJ, Shao DD, Shen H, Stergachis AB, Underhill HR, Urban AE, VonDran MW, Walsh CA, Wang T, Wu TP, Zong C, Lee EA, Vaccarino FM, . The Somatic Mosaicism across Human Tissues Network. Nature 2025; 643:47-59. PubMed
  • Li H. BWT construction and search at the terabase scale. Bioinformatics 2024. PubMed
  • Tan KT, Slevin MK, Leibowitz ML, Garrity-Janger M, Shan J, Li H, Meyerson M. Neotelomeres and telomere-spanning chromosomal arm fusions in cancer genomes revealed by long-read sequencing. Cell Genom 2024. PubMed
  • Li H, Durbin R. Genome assembly in the telomere-to-telomere era. Nat Rev Genet 2024. PubMed
  • Rhie A, Nurk S, Cechova M, Hoyt SJ, Taylor DJ, Altemose N, Hook PW, Koren S, Rautiainen M, Alexandrov IA, Allen J, Asri M, Bzikadze AV, Chen NC, Chin CS, Diekhans M, Flicek P, Formenti G, Fungtammasan A, Garcia Giron C, Garrison E, Gershman A, Gerton JL, Grady PGS, Guarracino A, Haggerty L, Halabian R, Hansen NF, Harris R, Hartley GA, Harvey WT, Haukness M, Heinz J, Hourlier T, Hubley RM, Hunt SE, Hwang S, Jain M, Kesharwani RK, Lewis AP, Li H, Logsdon GA, Lucas JK, Makalowski W, Markovic C, Martin FJ, Mc Cartney AM, McCoy RC, McDaniel J, McNulty BM, Medvedev P, Mikheenko A, Munson KM, Murphy TD, Olsen HE, Olson ND, Paulin LF, Porubsky D, Potapova T, Ryabov F, Salzberg SL, Sauria MEG, Sedlazeck FJ, Shafin K, Shepelev VA, Shumate A, Storer JM, Surapaneni L, Taravella Oill AM, Thibaud-Nissen F, Timp W, Tomaszkiewicz M, Vollger MR, Walenz BP, Watwood AC, Weissensteiner MH, Wenger AM, Wilson MA, Zarate S, Zhu Y, Zook JM, Eichler EE, O'Neill RJ, Schatz MC, Miga KH, Makova KD, Phillippy AM. The complete sequence of a human Y chromosome. Nature 2023; 621:344-354. PubMed
  • Liao WW, Asri M, Ebler J, Doerr D, Haukness M, Hickey G, Lu S, Lucas JK, Monlong J, Abel HJ, Buonaiuto S, Chang XH, Cheng H, Chu J, Colonna V, Eizenga JM, Feng X, Fischer C, Fulton RS, Garg S, Groza C, Guarracino A, Harvey WT, Heumos S, Howe K, Jain M, Lu TY, Markello C, Martin FJ, Mitchell MW, Munson KM, Mwaniki MN, Novak AM, Olsen HE, Pesout T, Porubsky D, Prins P, Sibbesen JA, Sirén J, Tomlinson C, Villani F, Vollger MR, Antonacci-Fulton LL, Baid G, Baker CA, Belyaeva A, Billis K, Carroll A, Chang PC, Cody S, Cook DE, Cook-Deegan RM, Cornejo OE, Diekhans M, Ebert P, Fairley S, Fedrigo O, Felsenfeld AL, Formenti G, Frankish A, Gao Y, Garrison NA, Giron CG, Green RE, Haggerty L, Hoekzema K, Hourlier T, Ji HP, Kenny EE, Koenig BA, Kolesnikov A, Korbel JO, Kordosky J, Koren S, Lee H, Lewis AP, Magalhães H, Marco-Sola S, Marijon P, McCartney A, McDaniel J, Mountcastle J, Nattestad M, Nurk S, Olson ND, Popejoy AB, Puiu D, Rautiainen M, Regier AA, Rhie A, Sacco S, Sanders AD, Schneider VA, Schultz BI, Shafin K, Smith MW, Sofia HJ, Abou Tayoun AN, Thibaud-Nissen F, Tricomi FF, Wagner J, Walenz B, Wood JMD, Zimin AV, Bourque G, Chaisson MJP, Flicek P, Phillippy AM, Zook JM, Eichler EE, Haussler D, Wang T, Jarvis ED, Miga KH, Garrison E, Marschall T, Hall IM, Li H, Paten B. A draft human pangenome reference. Nature 2023; 617:312-324. PubMed
  • Deorowicz S, Danek A, Li H. AGC: compact representation of assembled genomes with fast queries and updates. Bioinformatics 2023. PubMed
  • Jarvis ED, Formenti G, Rhie A, Guarracino A, Yang C, Wood J, Tracey A, Thibaud-Nissen F, Vollger MR, Porubsky D, Cheng H, Asri M, Logsdon GA, Carnevali P, Chaisson MJP, Chin CS, Cody S, Collins J, Ebert P, Escalona M, Fedrigo O, Fulton RS, Fulton LL, Garg S, Gerton JL, Ghurye J, Granat A, Green RE, Harvey W, Hasenfeld P, Hastie A, Haukness M, Jaeger EB, Jain M, Kirsche M, Kolmogorov M, Korbel JO, Koren S, Korlach J, Lee J, Li D, Lindsay T, Lucas J, Luo F, Marschall T, Mitchell MW, McDaniel J, Nie F, Olsen HE, Olson ND, Pesout T, Potapova T, Puiu D, Regier A, Ruan J, Salzberg SL, Sanders AD, Schatz MC, Schmitt A, Schneider VA, Selvaraj S, Shafin K, Shumate A, Stitziel NO, Stober C, Torrance J, Wagner J, Wang J, Wenger A, Xiao C, Zimin AV, Zhang G, Wang T, Li H, Garrison E, Haussler D, Hall I, Zook JM, Eichler EE, Phillippy AM, Paten B, Howe K, Miga KH, . Semi-automated assembly of high-quality diploid human reference genomes. Nature 2022; 611:519-531. PubMed
  • Tan KT, Slevin MK, Meyerson M, Li H. Identifying and correcting repeat-calling errors in nanopore sequencing of telomeres. Genome Biol 2022; 23:180. PubMed
  • Kokot M, Gudyś A, Li H, Deorowicz S. CoLoRd: compressing long reads. Nat Methods 2022; 19:441-444. PubMed
  • Nurk S, Koren S, Rhie A, Rautiainen M, Bzikadze AV, Mikheenko A, Vollger MR, Altemose N, Uralsky L, Gershman A, Aganezov S, Hoyt SJ, Diekhans M, Logsdon GA, Alonge M, Antonarakis SE, Borchers M, Bouffard GG, Brooks SY, Caldas GV, Chen NC, Cheng H, Chin CS, Chow W, de Lima LG, Dishuck PC, Durbin R, Dvorkina T, Fiddes IT, Formenti G, Fulton RS, Fungtammasan A, Garrison E, Grady PGS, Graves-Lindsay TA, Hall IM, Hansen NF, Hartley GA, Haukness M, Howe K, Hunkapiller MW, Jain C, Jain M, Jarvis ED, Kerpedjiev P, Kirsche M, Kolmogorov M, Korlach J, Kremitzki M, Li H, Maduro VV, Marschall T, McCartney AM, McDaniel J, Miller DE, Mullikin JC, Myers EW, Olson ND, Paten B, Peluso P, Pevzner PA, Porubsky D, Potapova T, Rogaev EI, Rosenfeld JA, Salzberg SL, Schneider VA, Sedlazeck FJ, Shafin K, Shew CJ, Shumate A, Sims Y, Smit AFA, Soto DC, Sović I, Storer JM, Streets A, Sullivan BA, Thibaud-Nissen F, Torrance J, Wagner J, Walenz BP, Wenger A, Wood JMD, Xiao C, Yan SM, Young AC, Zarate S, Surti U, McCoy RC, Dennis MY, Alexandrov IA, Gerton JL, O'Neill RJ, Timp W, Zook JM, Schatz MC, Eichler EE, Miga KH, Phillippy AM. The complete sequence of a human genome. Science 2022; 376:44-53. PubMed
  • Feng X, Cheng H, Portik D, Li H. Metagenome assembly of high-fidelity long reads with hifiasm-meta. Nat Methods 2022; 19:671-674. PubMed
  • Zhang H, Song L, Wang X, Cheng H, Wang C, Meyer CA, Liu T, Tang M, Aluru S, Yue F, Liu XS, Li H. Fast alignment and preprocessing of chromatin profiles with Chromap. Nat Commun 2021; 12:6566. PubMed
  • Tan KT, Kim H, Carrot-Zhang J, Zhang Y, Kim WJ, Kugener G, Wala JA, Howard TP, Chi YY, Beroukhim R, Li H, Ha G, Alper SL, Perlman EJ, Mullen EA, Hahn WC, Meyerson M, Hong AL. Haplotype-resolved germline and somatic alterations in renal medullary carcinomas. Genome Med 2021; 13:114. PubMed
  • Xing D, Tan L, Chang CH, Li H, Xie XS. Accurate SNV detection in single cells by transposon-based whole-genome amplification of complementary strands. Proc Natl Acad Sci U S A 2021. PubMed
  • Danecek P, Bonfield JK, Liddle J, Marshall J, Ohan V, Pollard MO, Whitwham A, Keane T, McCarthy SA, Davies RM, Li H. Twelve years of SAMtools and BCFtools. Gigascience 2021. PubMed
  • Bonfield JK, Marshall J, Danecek P, Li H, Ohan V, Whitwham A, Keane T, Davies RM. HTSlib: C library for reading/writing high-throughput sequencing data. Gigascience 2021. PubMed
  • Chu C, Borges-Monroy R, Viswanadham VV, Lee S, Li H, Lee EA, Park PJ. Comprehensive identification of transposable element insertions using multiple sequencing technologies. Nat Commun 2021; 12:3836. PubMed
  • Garg S, Fungtammasan A, Carroll A, Chou M, Schmitt A, Zhou X, Mac S, Peluso P, Hatas E, Ghurye J, Maguire J, Mahmoud M, Cheng H, Heller D, Zook JM, Moemke T, Marschall T, Sedlazeck FJ, Aach J, Chin CS, Church GM, Li H. Chromosome-scale, haplotype-resolved assembly of human genomes. Nat Biotechnol 2020. PubMed
  • Garg S, Aach J, Li H, Durbin R, Church G. A haplotype-aware de novo assembly of related individuals using pedigree sequence graph. Bioinformatics 2019. PubMed
  • Li H. Identifying centromeric satellites with dna-brnn. Bioinformatics 2019. PubMed
  • Li H. Minimap2: pairwise alignment for nucleotide sequences. Bioinformatics 2018; 34:3094-3100. PubMed
  • Li H, Bloom JM, Farjoun Y, Fleharty M, Gauthier L, Neale B, MacArthur D. A synthetic-diploid benchmark for accurate variant-calling evaluation. Nat Methods 2018; 15:595-597. PubMed
  • Tan L, Xing D, Chang CH, Li H, Xie XS. Three-dimensional genome structures of single diploid human cells. Science 2018; 361:924-928. PubMed
  • Chen C, Xing D, Tan L, Li H, Zhou G, Huang L, Xie XS. Single-cell whole-genome analyses by Linear Amplification via Transposon Insertion (LIANTI). Science 2017; 356:189-194. PubMed
  • 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. The Simons Genome Diversity Project: 300 genomes from 142 diverse populations. Nature 2016; 538:201-206. PubMed
  • Li H. Minimap and miniasm: fast mapping and de novo assembly for noisy long sequences. Bioinformatics 2016; 32:2103-10. PubMed
  • Li H. A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data. Bioinformatics 2011; 27:2987-93. PubMed
  • Li H, Durbin R. Inference of human population history from individual whole-genome sequences. Nature 2011; 475:493-6. PubMed
  • Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R, . The Sequence Alignment/Map format and SAMtools. Bioinformatics 2009; 25:2078-9. PubMed
  • Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009; 25:1754-60. PubMed
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