04386cam a2200517Ii 4500001001300000003000600013005001700019006001900036007001500055008004100070040011600111020003600227020003300263020001800296020002300314035004000337050002300377060001500400060001100415072002500426082001600451130003300467245013300500264004800633264001200681300006300693336002600756337002600782338003600808504005100844505238900895588008203284650001403366650002203380650002903402650003803431650005103469650004003520650004803560655002103608655002203629700003503651700003103686856007503717856007603792ocn895660707OCoLC20190328114809.0m     o  d        cr cnu|||unuuu141117t20152015ne a    ob    001 0 eng d  aN$TbengerdaepncN$TdN$TdUIUdYDXCPdOCLCFdWAUdOCLCQdTEFODdLVTdRTHdCASUMdU3WdD6HdCHVBKdWYUdOCLCQ  a9780124051737q(electronic bk.)  a0124051731q(electronic bk.)  z9780124047488  z0124047483q(hbk.)  a(OCoLC)895660707z(OCoLC)1066629806 4aQH447b.C55 2015eb 4a2015 A-138 4aQU 460 7aSCIx0070002bisacsh04a572.8/62230 aClinical genomics (Kulkarni)10aClinical genomics / h[electronic resource]cedited by Shashikant Kulkarni M.S. (Medicine)., PhD. FACMG, John Pfeifer M.D., PhD. 1aAmsterdam :bElsevier/Academic Press,c2015 4c�2015  a1 online resource (xvii, 470 pages) :bcolor illustrations  atextbtxt2rdacontent  acomputerbc2rdamedia  aonline resourcebcr2rdacarrier  aIncludes bibliographical references and index.0 aOverview of technical aspects and chemistries of next-generation sequencing / Ian S. Hagemann -- Clinical genome sequencing / Tina M. Hambuch, John Mayfield, Shankar Ajay, Michelle Hogue, Carri-Lyn Mead and Erica Ramos -- Targeted hybrid capture methods / Elizabeth C. Chastain -- Amplification-based methods / Marina N. Nikiforova, William A. Laframboise and Yuri E. Nikiforov -- Emerging DNA sequencing technologies / Shashikant Kulkarni and John Pfeifer -- RNA-sequencing and methylome analysis / Shamika Ketkar and Shashikant Kulkarni -- Base calling, read mapping, and coverage analysis / Paul Cliften -- Single nucleotide variant detection using next generation sequencing / David H. Spencer, Bin Zhang and John Pfeifer -- Insertions and deletions (indels) / Jennifer K. Sehn -- Translocation detection using next-generation sequencing / Haley Abel, John Pfeifer and Eric Duncavage -- Copy number variant detection using next-generation sequencing / Alex Nord, Stephen J. Salipante and Colin Pritchard -- Reference databases for disease associations / Wendy S. Rubinstein, Deanna M. Church and Donna R. Maglott -- Reporting of clinical genomics test results / Kristina A. Roberts, Rong Mao, Brendan D. O'Fallon and Elaine Lyon -- Reporting software / Rakesh Nagarajan -- Constitutional diseases: amplification-based next-generation sequencing / Vanessa L. Horner and Madhuri R. Hegde -- Targeted hybrid capture for inherited disease panels / Sami S. Amr and Birgit Funke -- Constitutional disorders: whole exome and whole genome sequencing / Benjamin D. Solomon -- Somatic diseases (cancer): amplification-based next-generation sequencing / Fengqi Chang, Geoffrey L. Liu, Cindy J. Liu and Marilyn M. Li -- Targeted hybrid capture for somatic mutation detection in the clinic / Catherine E. Cottrell, Andrew J. Bredemeyer and Hussam Al-Kateb -- Somatic diseases (cancer): whole exome and whole genome sequencing / Jennifer K. Sehn -- Assay validation / Amy S. Gargis, Lisa Kalman and Ira M. Lubin -- Regulatory considerations related to clinical next generation sequencing / Shashikant Kulkarni and John Pfeifer -- Genomic reference materials for clinical applications / Justin Zook and Marc Salit -- Ethical challenges to next-generation sequencing / Stephanie Solomon -- Legal issues / Roger D. Klein -- Billing and reimbursement / Kris Rickhoff, Andrew Drury and John Pfeifer.0 aOnline resource; title from PDF title page (EBSCO, viewed November 20, 2014). 0aGenomics. 0aMedical genetics.12aGenomics.0(DNLM)D02328122aClinical Medicine.0(DNLM)D015510 7aSCIENCExLife SciencesxBiochemistry.2bisacsh 7aGenomics.2fast0(OCoLC)fst00940228 7aMedical genetics.2fast0(OCoLC)fst01014133 0aElectronic book. 4aElectronic books.1 aKulkarni, Shashikant,eeditor.1 aPfeifer, John D.,eeditor.403ScienceDirectuhttp://www.sciencedirect.com/science/book/9780124047488403ScienceDirectuhttps://www.sciencedirect.com/science/book/9780124047488