Concepedia

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

F. Buket Basmanav, Laura Cau, Aylar Tafazzoli, Marie‐Claire Méchin, Sabrina Wolf, Maria Teresa Romano, Frederic Valentin, Henning Wiegmann, Anne Huchenq, Rima Kandil,

The American Journal of Human Genetics · 2016 · 146 citations · 27 references

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27

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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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna, Matthew G. Hanna, Eric Banks et al. · Genome Research · 2010 · 30K citations · Full text

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Normal keratinization in a spontaneously immortalized aneuploid human keratinocyte cell line.

Petra Boukamp, R T Petrussevska, Dirk Breitkreutz et al. · The Journal of Cell Biology · 1988 · 4.2K citations · Full text

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The Major Synovial Targets of the Rheumatoid Arthritis-Specific Antifilaggrin Autoantibodies Are Deiminated Forms of the α- and β-Chains of Fibrin

Christine Masson-Bessière, Mireille Sebbag, Elisabeth Girbal‐Neuhauser et al. · The Journal of Immunology · 2001 · 642 citations

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