Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth.

By Menachem Fromer, J. Moran, K. Chambert, Eric Banks, Sarah L Bergen, D. Ruderfer, Robert E. Handsaker, Steven A. McCarroll, M. O’Donovan, M. Owen and 5 more. American Journal of Human Genetics, 2012

577 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/8588a8191473876d6f175e44043e580deb85fd93

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In Genetics

1. Daniel C. Koboldt

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1. Min Zhao
2. Zhongming Zhao
3. Daniel C. Koboldt

Citations in the corpus

• Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives (2013, methodology): “edu/xhmm/ C++ BAM Uses principal component analysis to normalize copy number and HMM to detect CNVs [55]”
• Best practices for variant calling in clinical sequencing (2020, methodology): “MOPS [45], CONTRA [46], CoNVEX [47], ExomeCNV [48], ExomeDepth [49], XHMM [50]”