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Old 05-21-2017, 03:53 PM   #13
Location: Washington DC

Join Date: Aug 2011
Posts: 78

No worries, at least it clarified the complete case via my reply. Here are the complete details of the 2 papers I mentioned above:

Francioli LC, Cretu-Stancu M, Garimella KV, Fromer M, Kloosterman WP, Samocha KE, Neale BM, Daly MJ, Banks E, DePristo MA, de Bakker PI. A framework for the detection of de novo mutations in family-based sequencing data. Eur J Hum Genet. 2017 Feb; 25(2):227-233. PMID: 27876817.

Hehir-Kwa JY, Marschall T, Kloosterman WP, Francioli LC, Baaijens JA, Dijkstra LJ, Abdellaoui A, Koval V, Thung DT, Wardenaar R, Renkens I, Coe BP, Deelen P, de Ligt J, Lameijer EW, van Dijk F, Hormozdiari F, Uitterlinden AG, van Duijn CM, Eichler EE, de Bakker PI, Swertz MA, Wijmenga C, van Ommen GB, Slagboom PE, Boomsma DI, Schönhuth A, Ye K, Guryev V. A high-quality human reference panel reveals the complexity and distribution of genomic structural variants. Nat Commun. 2016 Oct 06; 7:12989. PMID: 27708267.
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