Heng Li

Summary

Publications

  1. ncbi A survey of sequence alignment algorithms for next-generation sequencing
    Heng Li
    Broad Institute, Cambridge, MA 02142, USA
    Brief Bioinform 11:473-83. 2010
  2. ncbi Exploring single-sample SNP and INDEL calling with whole-genome de novo assembly
    Heng Li
    Medical Population Genetics Program, Broad Institute, 7 Cambridge Center, MA 02142, USA
    Bioinformatics 28:1838-44. 2012
  3. ncbi Tabix: fast retrieval of sequence features from generic TAB-delimited files
    Heng Li
    Program in Medical Population Genetics, The Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
    Bioinformatics 27:718-9. 2011
  4. ncbi Improving SNP discovery by base alignment quality
    Heng Li
    Broad Institute, 7 Cambridge Center, Cambridge, MA 02142, USA
    Bioinformatics 27:1157-8. 2011
  5. ncbi A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
    Heng Li
    Medical Population Genetics Program, Broad Institute, 7 Cambridge Center, Cambridge, MA 02142, USA
    Bioinformatics 27:2987-93. 2011
  6. ncbi The Sequence Alignment/Map format and SAMtools
    Heng Li
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, CB10 1SA, UK, Broad Institute of MIT and Harvard, Cambridge, MA 02141, USA
    Bioinformatics 25:2078-9. 2009
  7. ncbi Using population admixture to help complete maps of the human genome
    Giulio Genovese
    1 Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA 2 Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA 3 Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, USA 4 Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA
    Nat Genet 45:406-14. 2013
  8. ncbi A direct characterization of human mutation based on microsatellites
    James X Sun
    Division of Health Sciences and Technology, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA
    Nat Genet 44:1161-5. 2012

Detail Information

Publications8

  1. ncbi A survey of sequence alignment algorithms for next-generation sequencing
    Heng Li
    Broad Institute, Cambridge, MA 02142, USA
    Brief Bioinform 11:473-83. 2010
    ..We also consider future development of alignment algorithms with respect to emerging long sequence reads and the prospect of cloud computing...
  2. ncbi Exploring single-sample SNP and INDEL calling with whole-genome de novo assembly
    Heng Li
    Medical Population Genetics Program, Broad Institute, 7 Cambridge Center, MA 02142, USA
    Bioinformatics 28:1838-44. 2012
    ..In principle, every analysis based on whole-genome shotgun sequencing (WGS) data, such as SNP and insertion/deletion (INDEL) calling, can also be achieved with unitigs...
  3. ncbi Tabix: fast retrieval of sequence features from generic TAB-delimited files
    Heng Li
    Program in Medical Population Genetics, The Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
    Bioinformatics 27:718-9. 2011
    ..AVAILABILITY AND IMPLEMENTATION: http://samtools.sourceforge.net...
  4. ncbi Improving SNP discovery by base alignment quality
    Heng Li
    Broad Institute, 7 Cambridge Center, Cambridge, MA 02142, USA
    Bioinformatics 27:1157-8. 2011
    ..The effectiveness of BAQ has been positively confirmed on large datasets by the 1000 Genomes Project analysis subgroup. AVAILABILITY: http://samtools.sourceforge.net CONTACT: hengli@broadinstitute.org...
  5. ncbi A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
    Heng Li
    Medical Population Genetics Program, Broad Institute, 7 Cambridge Center, Cambridge, MA 02142, USA
    Bioinformatics 27:2987-93. 2011
    ..g. multi-sample low-coverage sequencing or somatic mutation discovery). These applications press for the development of new methods for analyzing sequence data with uncertainty...
  6. ncbi The Sequence Alignment/Map format and SAMtools
    Heng Li
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, CB10 1SA, UK, Broad Institute of MIT and Harvard, Cambridge, MA 02141, USA
    Bioinformatics 25:2078-9. 2009
    ..AVAILABILITY: http://samtools.sourceforge.net...
  7. ncbi Using population admixture to help complete maps of the human genome
    Giulio Genovese
    1 Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA 2 Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA 3 Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, USA 4 Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA
    Nat Genet 45:406-14. 2013
    ..We describe how knowledge of the locations of these sequences can inform disease association and genome biology studies...
  8. ncbi A direct characterization of human mutation based on microsatellites
    James X Sun
    Division of Health Sciences and Technology, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA
    Nat Genet 44:1161-5. 2012
    ..We infer that the sequence mutation rate is 1.4-2.3×10(-8) mutations per base pair per generation (90% credible interval) and that human-chimpanzee speciation occurred 3.7-6.6 million years ago...