Heng Li

The Sequence Alignment/Map format and SAMtools

Fast and accurate short read alignment with Burrows–Wheeler transform

Minimap2: pairwise alignment for nucleotide sequences

Twelve years of SAMtools and BCFtools

Fast and accurate long-read alignment with Burrows–Wheeler transform

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

Aligning sequence reads, clone sequences and assembly con*gs with BWA-MEM

A Draft Sequence of the Neandertal Genome

Accurate whole human genome sequencing using reversible terminator chemistry

The complete sequence of a human genome

Inference of human population history from individual whole-genome sequences

Mapping short DNA sequencing reads and calling variants using mapping quality scores