Concepedia

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

Timothy W. Yu, Ganeshwaran H. Mochida, David J. Tischfield, Sema K. Sgaier, Laura Flores‐Sarnat, Consolato Sergi, Meral Topçu, Marie McDonald, Brenda J. Barry, Jillian M. Felie,

Nature Genetics · 2010 · 286 citations · 28 references

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28

Fast and accurate short read alignment with Burrows–Wheeler transform

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

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Fast and accurate long-read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2010 · 12.9K citations · Full text

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The Human Genome Browser at UCSC

W. James Kent, Charles W. Sugnet, Terrence S. Furey et al. · Genome Research · 2002 · 10.9K citations · Full text

, , +9

dbSNP: the NCBI database of genetic variation

Stephen T. Sherry · Nucleic Acids Research · 2001 · 7.8K citations · Full text

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals

François-Olivier Desmet, Dalil Hamroun, Marine Lalande et al. · Nucleic Acids Research · 2009 · 2.5K citations · Full text

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