04444cam a2200541Ii 4500 ocn895660707 OCoLC 20190328114809.0 m o d cr cnu|||unuuu 141117t20152015ne a ob 001 0 eng d N$T eng rda pn N$T N$T UIU YDXCP OCLCF WAU OCLCQ TEFOD LVT RTH CASUM U3W D6H CHVBK WYU OCLCQ 1066629806 9780124051737 (electronic bk.) 0124051731 (electronic bk.) 9780124047488 0124047483 (hbk.) (OCoLC)895660707 (OCoLC)1066629806 QH447 .C55 2015eb 2015 A-138 QU 460 SCI 007000 bisacsh 572.8/6 23 Clinical genomics (Kulkarni) Clinical genomics / [electronic resource] edited by Shashikant Kulkarni M.S. (Medicine)., PhD. FACMG, John Pfeifer M.D., PhD. Amsterdam : Elsevier/Academic Press, 2015 �2015 1 online resource (xvii, 470 pages) : color illustrations text txt rdacontent computer c rdamedia online resource cr rdacarrier Includes bibliographical references and index. Overview 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. Online resource; title from PDF title page (EBSCO, viewed November 20, 2014). Genomics. Medical genetics. Genomics. (DNLM)D023281 Clinical Medicine. (DNLM)D015510 SCIENCE Life Sciences Biochemistry. bisacsh Genomics. fast (OCoLC)fst00940228 Medical genetics. fast (OCoLC)fst01014133 Electronic book. Electronic books. Kulkarni, Shashikant, editor. Pfeifer, John D., editor. ScienceDirect http://www.sciencedirect.com/science/book/9780124047488 ScienceDirect https://www.sciencedirect.com/science/book/9780124047488 247001 247001