000			04444cam a2200541Ii 4500
001			ocn895660707
003			OCoLC
005			20190328114809.0
006			m o d
007			cr cnu|||unuuu
008			141117t20152015ne a ob 001 0 eng d
040			_aN$T _beng _erda _epn _cN$T _dN$T _dUIU _dYDXCP _dOCLCF _dWAU _dOCLCQ _dTEFOD _dLVT _dRTH _dCASUM _dU3W _dD6H _dCHVBK _dWYU _dOCLCQ
019			_a1066629806
020			_a9780124051737 _q(electronic bk.)
020			_a0124051731 _q(electronic bk.)
020			_z9780124047488
020			_z0124047483 _q(hbk.)
035			_a(OCoLC)895660707 _z(OCoLC)1066629806
050		4	_aQH447 _b.C55 2015eb
060		4	_a2015 A-138
060		4	_aQU 460
072		7	_aSCI _x007000 _2bisacsh
082	0	4	_a572.8/6 _223
130	0		_aClinical genomics (Kulkarni)
245	1	0	_aClinical genomics / _h[electronic resource] _cedited by Shashikant Kulkarni M.S. (Medicine)., PhD. FACMG, John Pfeifer M.D., PhD.
264		1	_aAmsterdam : _bElsevier/Academic Press, _c2015
264		4	_c�2015
300			_a1 online resource (xvii, 470 pages) : _bcolor illustrations
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
504			_aIncludes bibliographical references and index.
505	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.
588	0		_aOnline resource; title from PDF title page (EBSCO, viewed November 20, 2014).
650		0	_aGenomics.
650		0	_aMedical genetics.
650	1	2	_aGenomics. _0(DNLM)D023281
650	2	2	_aClinical Medicine. _0(DNLM)D015510
650		7	_aSCIENCE _xLife Sciences _xBiochemistry. _2bisacsh
650		7	_aGenomics. _2fast _0(OCoLC)fst00940228
650		7	_aMedical genetics. _2fast _0(OCoLC)fst01014133
655		0	_aElectronic book.
655		4	_aElectronic books.
700	1		_aKulkarni, Shashikant, _eeditor.
700	1		_aPfeifer, John D., _eeditor.
856	4	0	_3ScienceDirect _uhttp://www.sciencedirect.com/science/book/9780124047488
856	4	0	_3ScienceDirect _uhttps://www.sciencedirect.com/science/book/9780124047488
999			_c247001 _d247001