Design and MinION testing of a nanopore targeted gene sequencing panel for chronic lymphocytic leukemia

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang, Man Li, Håkon Håkonarson · Nucleic Acids Research · 2010 · 15.1K citations · Full text

Genetics, Genomics, Genetic Medicine +22

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

Helga Thorvaldsdóttir, James Robinson, Jill P. Mesirov · Briefings in Bioinformatics · 2012 · 9.3K citations · Full text

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

Daniel C. Koboldt, Qunyuan Zhang, David E. Larson et al. · Genome Research · 2012 · 5.2K citations · Full text

Somatic Mutation, Somatic Variant, Tumor Heterogeneity +13

Nanopore sequencing and assembly of a human genome with ultra-long reads

Miten Jain, Sergey Koren, Karen H. Miga et al. · Nature Biotechnology · 2018 · 2K citations · Full text

A complete bacterial genome assembled de novo using only nanopore sequencing data

Nicholas J. Loman, Joshua Quick, Jared T. Simpson · Nature Methods · 2015 · 1.4K citations

Long-read Sequencing, Sequencing, Engineering +9