Concepedia

Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

Marcel Tawk, Francesco Danilo Tiziano, Julien Veillet, Mónica Bayés, Flora Nolent, Virginie Garcia, Serenella Servidei, Enrico Bertini, Francesc Castro-Giner, Yavuz Renda,

The American Journal of Human Genetics · 2012 · 154 citations · 20 references

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20

The Sequence Alignment/Map format and SAMtools

Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text

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Fast and accurate short read alignment with Burrows–Wheeler transform

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

, , +12

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

, , +17

Identification and characterization of a spinal muscular atrophy-determining gene

Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet et al. · Cell · 1995 · 4K citations · Full text

, , +6

Merlin—rapid analysis of dense genetic maps using sparse gene flow trees

Gonçalo R. Abecasis, Stacey S. Cherny, William Cookson et al. · Nature Genetics · 2001 · 3.4K citations

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