The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

dbSNP: the NCBI database of genetic variation

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

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Accurate whole human genome sequencing using reversible terminator chemistry

David Bentley, Shankar Balasubramanian, Harold Swerdlow et al. · Nature · 2008 · 3.8K citations · Full text

Life Sciences, Biology, Genetics +11

CDD: a Conserved Domain Database for the functional annotation of proteins

Aron Marchler‐Bauer, Shuo Lu, J. B. Anderson et al. · Nucleic Acids Research · 2010 · 3.2K citations · Full text

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PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

Kai Wang, Mingyao Li, Dexter Hadley et al. · Genome Research · 2007 · 1.9K 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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