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Assuring the quality of next-generation sequencing in clinical laboratory practice.
Gargis AS, Kalman L, Berry MW, Bick DP, Dimmock DP, Hambuch T, Lu F, Lyon E, Voelkerding KV, Zehnbauer BA, Agarwala R, Bennett SF, Chen B, Chin EL, Compton JG, Das S, Farkas DH, Ferber MJ, Funke BH, Furtado MR, Ganova-Raeva LM, Geigenmüller U, Gunselman SJ, Hegde MR, Johnson PL, Kasarskis A, Kulkarni S, Lenk T, Liu CS, Manion M, Manolio TA, Mardis ER, Merker JD, Rajeevan MS, Reese MG, Rehm HL, Simen BB, Yeakley JM, Zook JM, Lubin IM. Gargis AS, et al. Among authors: funke bh. Nat Biotechnol. 2012 Nov;30(11):1033-6. doi: 10.1038/nbt.2403. Nat Biotechnol. 2012. PMID: 23138292 Free PMC article. No abstract available.
Good laboratory practice for clinical next-generation sequencing informatics pipelines.
Gargis AS, Kalman L, Bick DP, da Silva C, Dimmock DP, Funke BH, Gowrisankar S, Hegde MR, Kulkarni S, Mason CE, Nagarajan R, Voelkerding KV, Worthey EA, Aziz N, Barnes J, Bennett SF, Bisht H, Church DM, Dimitrova Z, Gargis SR, Hafez N, Hambuch T, Hyland FC, Luna RA, MacCannell D, Mann T, McCluskey MR, McDaniel TK, Ganova-Raeva LM, Rehm HL, Reid J, Campo DS, Resnick RB, Ridge PG, Salit ML, Skums P, Wong LJ, Zehnbauer BA, Zook JM, Lubin IM. Gargis AS, et al. Among authors: funke bh. Nat Biotechnol. 2015 Jul;33(7):689-93. doi: 10.1038/nbt.3237. Nat Biotechnol. 2015. PMID: 26154004 Free PMC article. No abstract available.
ACMG clinical laboratory standards for next-generation sequencing.
Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, Friez MJ, Funke BH, Hegde MR, Lyon E; Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Commitee. Rehm HL, et al. Among authors: funke bh. Genet Med. 2013 Sep;15(9):733-47. doi: 10.1038/gim.2013.92. Epub 2013 Jul 25. Genet Med. 2013. PMID: 23887774 Free PMC article.
Targeted sequencing using Affymetrix CustomSeq Arrays.
Teekakirikul P, Cox S, Funke B, Rehm HL. Teekakirikul P, et al. Curr Protoc Hum Genet. 2011 Apr;Chapter 7:Unit7.18. doi: 10.1002/0471142905.hg0718s69. Curr Protoc Hum Genet. 2011. PMID: 21480183 Free PMC article.
96 results