DeepEdit: single-molecule detection and phasing of A-to-I RNA editing events using nanopore direct RNA sequencing

The Sequence Alignment/Map format and SAMtools

Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 64.7K citations · Full text

Minimap2: pairwise alignment for nucleotide sequences

Heng Li · Bioinformatics · 2018 · 15.5K citations · Full text

Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype

Daehwan Kim, Joseph M. Paggi, Chanhee Park et al. · Nature Biotechnology · 2019 · 14.5K citations · Full text

Chromatin, Genetics, Genome Structure +6

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

Heng Li · Bioinformatics · 2011 · 7.1K citations · Full text

NanoPack: visualizing and processing long-read sequencing data

Wouter De Coster, Svenn D’Hert, Darrin T. Schultz et al. · Bioinformatics · 2018 · 3.1K citations · Full text