Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes

DnaSP v5: a software for comprehensive analysis of DNA polymorphism data

Pablo Librado, Julio Rozas · Bioinformatics · 2009 · 16.4K citations · Full text

Life Sciences, Bioinformatics, Genetics +16

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

Haploview: analysis and visualization of LD and haplotype maps

Jeffrey C. Barrett, Ben Fry, Julian Maller et al. · Bioinformatics · 2004 · 14.7K citations · Full text

Life Sciences, Biostatistics, Genetics +17

Mathematical model for studying genetic variation in terms of restriction endonucleases.

M Nei, Wen‐Hsiung Li · Proceedings of the National Academy of Sciences · 1979 · 10.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

An integrated map of genetic variation from 1,092 human genomes

Nature · 2012 · 8.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17