17.8k citations · 40.3k across the 19 of their papers we have counts for
4 papers · 1 filter
Minimap and miniasm: fast mapping and de novo assembly for noisy long sequences
Heng Li
Motivation: Single Molecule Real-Time (SMRT) sequencing technology and Oxford Nanopore technologies (ONT) produce reads over 10kbp in length, which have enabled high-quality genome…
BGT: efficient and flexible genotype query across many samples
Heng Li
Summary: BGT is a compact format, a fast command line tool and a simple web application for efficient and convenient query of whole-genome genotypes and frequencies across tens to…
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…
Correcting Illumina sequencing errors for human data
Heng Li
Summary: We present a new tool to correct sequencing errors in Illumina data produced from high-coverage whole-genome shotgun resequencing. It uses a non-greedy algorithm and shows…