With heterozygousGenome Researchgenome.orgCNV carrier states and recessive illness allelesdeletion
With heterozygousGenome Researchgenome.orgCNV carrier states and recessive illness allelesdeletion have been included; Three “tiers” of possible carrier mutations have been assigned (Tiers and) according to the likelihood of association with recessive illness and nonassociation with dominant disease (see Supplemental Fig. S; Supplemental Final results); Filtering was depending on the minimum extent of each CNV. All genomic coordinates are according to the February assembly in the reference human genome (GRChhg), unless otherwise specified Whole-genome sequencing for optimized patient management. Sci Transl Med : re. Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, et al.Carrier testing for serious childhood recessive ailments by next-generation sequencing. Sci Transl Med : ra. Berg JS, Adams M, Nassar PubMed ID:http://www.ncbi.nlm.nih.gov/pubmed/27515134?dopt=Abstract N, Bizon C, Lee K, Schmitt CP, Wilhelmsen KC, Evans JP.An informatics strategy to analyzing the incidentalome. Genet Med :Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang S-HL, Yang Y, Wiszniewska J, Nowakowska BA, et al.Detection of clinically relevant exonic copy-number modifications by array CGH. Hum Mutat :Boone PM, Liu P, Zhang F, Carvalho CMB, Towne CF, Batish SD, Lupski JR.Alu-specific microhomology-mediated deletion on the final exon of SPAST in 3 unrelated subjects with hereditary spastic paraplegia. Genet Med :Boone PM, Soens ZT, Campbell IM, Stankiewicz P, Cheung SW, Patel A, Beaudet AL, Plon SE, Shaw CA, McGuire AL, et al.Incidental copynumber variants identified by routine genome testing inside a clinical population. Genet Med :Campbell IM, Yatsenko SA, Hixson P, Reimschisel T, Thomas M, MedChemExpress NSC348884 Wilson W, Dayal U, Wheless JW, Crunk A, Curry C, et al.Novel q. gene deletions encompassing combinations of 4 Mendelian illness genes: STXBP, SPTAN, ENG, and TORA. Genet Med :Cheung SW, Shaw CA, Yu W, Li J, Ou Z, Patel A, Yatsenko SA, Cooper ML, Furman P, Stankiewicz P, et al.Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med :Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, et al.Origins and functional impact of copy number variation in the human genome. Nature :de Leeuw N, Dijkhuizen T, Hehir-Kwa JY, Carter NP, Feuk L, Firth HV, Kuhn RM, Ledbetter DH, Martin CL, van Ravenswaaij-Arts CMA, et al.Diagnostic interpretation of array data utilizing public databases and world-wide-web sources. Hum Mutat :Deeb SS, Motulsky AG.Red-green colour vision defects. In GeneReviews (ed. Pagon RA). University of Washington, Seattle, WA. Dye 
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