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PEMapper and PECaller provide a simplified approach to whole-genome sequencing.
Johnston HR, Chopra P, Wingo TS, Patel V; International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome; Epstein MP, Mulle JG, Warren ST, Zwick ME, Cutler DJ. Johnston HR, et al. Among authors: patel v. Proc Natl Acad Sci U S A. 2017 Mar 7;114(10):E1923-E1932. doi: 10.1073/pnas.1618065114. Epub 2017 Feb 21. Proc Natl Acad Sci U S A. 2017. PMID: 28223510 Free PMC article.
Targeted sequencing of the human X chromosome exome.
Mondal K, Shetty AC, Patel V, Cutler DJ, Zwick ME. Mondal K, et al. Among authors: patel v. Genomics. 2011 Oct;98(4):260-5. doi: 10.1016/j.ygeno.2011.04.004. Epub 2011 Apr 16. Genomics. 2011. PMID: 21524701 Free PMC article.
Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease.
Okou DT, Mondal K, Faubion WA, Kobrynski LJ, Denson LA, Mulle JG, Ramachandran D, Xiong Y, Svingen P, Patel V, Bose P, Waters JP, Prahalad S, Cutler DJ, Zwick ME, Kugathasan S. Okou DT, et al. Among authors: patel v. J Pediatr Gastroenterol Nutr. 2014 May;58(5):561-8. doi: 10.1097/MPG.0000000000000302. J Pediatr Gastroenterol Nutr. 2014. PMID: 24792626 Free PMC article.
Chromosomal microarray impacts clinical management.
Riggs ER, Wain KE, Riethmaier D, Smith-Packard B, Faucett WA, Hoppman N, Thorland EC, Patel VC, Miller DT. Riggs ER, et al. Among authors: patel vc. Clin Genet. 2014 Feb;85(2):147-53. doi: 10.1111/cge.12107. Epub 2013 Feb 21. Clin Genet. 2014. PMID: 23347240
5,842 results