17.8k citations · 40.3k across the 19 of their papers we have counts for
Showing 2012Show all
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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…