Concepedia

Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss

Antje K. Huebner, Marta Gandía, Peter Frommolt, A Maak, Eva M. Wicklein, Hölger Thiele, Janine Altmüller, Florian Wagner, Antonio Viñuela, Luis A. Aguirre,

The American Journal of Human Genetics · 2011 · 86 citations · 18 references

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18

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

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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

, , +15

Mapping short DNA sequencing reads and calling variants using mapping quality scores

Heng Li, Jue Ruan, Richard Durbin · Genome Research · 2008 · 2.7K citations · Full text

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Distribution and intensity of constraint in mammalian genomic sequence

Gregory M. Cooper, Eric A. Stone, George Asimenos et al. · Genome Research · 2005 · 1.4K citations · Full text

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