Concepedia

Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes

Kelly Gonzalez, Xiang Li, Hsiao‐Mei Lu, Hong Lu, Joan E. Pellegrino, Ryan Miller, Wenqi Zeng, Elizabeth Chao

JIMD Reports · 2014 · 11 citations · 28 references

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28

A map of human genome variation from population-scale sequencing

Nature · 2010 · 8.1K citations · Full text

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dbSNP: the NCBI database of genetic variation

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

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The International HapMap Project

Richard A. Gibbs, John W. Belmont, Paul Hardenbol et al. · Nature · 2003 · 6.2K citations · Full text

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Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

Kai Ye, Marcel H. Schulz, Quan Long et al. · Bioinformatics · 2009 · 2.2K citations · Full text

, , +17

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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