Concepedia

C5orf42 is the major gene responsible for OFD syndrome type VI

Estelle Lopez, Christel Thauvin‐Robinet, Bruno Reversade, Nadia El Khartoufi, Louise Devisme, Muriel Holder, Hélène Ansart‐Franquet, Magali Avila, Didier Lacombe, Pascale Kleinfinger,

Human Genetics · 2013 · 90 citations · 25 references

DOI

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25

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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A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text

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Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

Andreas Gnirke, Alexandre Melnikov, Jared Maguire et al. · Nature Biotechnology · 2009 · 1.5K citations · Full text

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Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

Liyun Sang, Julie J. Miller, Kevin C. Corbit et al. · Cell · 2011 · 621 citations · Full text

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Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Moumita Chaki, Rannar Airik, Amiya K. Ghosh et al. · Cell · 2012 · 391 citations · Full text

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