7.5k citations · 7.9k across the 3 of their papers we have counts for
3 papers
q-bio.GN2015
FermiKit: assembly-based variant calling for Illumina resequencing data
Heng Li
Summary: FermiKit is a variant calling pipeline for Illumina data. It de novo assembles short reads and then maps the assembly against a reference genome to call SNPs, short insert…
q-bio.GN2012★ 428 cited
Exploring single-sample SNP and INDEL calling with whole-genome de novo assembly
Heng Li
Motivation: Eugene Myers in his string graph paper (Myers, 2005) suggested that in a string graph or equivalently a unitig graph, any path spells a valid assembly. As a string/unit…
q-bio.GN2012★ 7.5k cited
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
Heng Li
Motivation: Most existing methods for DNA sequence analysis rely on accurate sequences or genotypes. However, in applications of the next-generation sequencing (NGS), accurate geno…