PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

Life Sciences, Bioinformatics, Biology +12

Integrated analysis of multimodal single-cell data

Yuhan Hao, Stephanie Hao, Erica Andersen‐Nissen et al. · Cell · 2021 · 16K citations · Full text

Life Sciences, Bioinformatics, Immunology +17

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

Kai Wang, Man Li, Håkon Håkonarson · Nucleic Acids Research · 2010 · 15.6K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Enrichr: a comprehensive gene set enrichment analysis web server 2016 update

Maxim V. Kuleshov, Matthew R. Jones, Andrew D. Rouillard et al. · Nucleic Acids Research · 2016 · 11.7K citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +10

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17