000			03143nam a22005537a 4500
001			sulb-eb0022974
003			BD-SySUS
005			20160413122329.0
007			cr nn 008mamaa
008			131016s2013 xxu| s |||| 0|eng d
020			_a9781461490326 _9978-1-4614-9032-6
024	7		_a10.1007/978-1-4614-9032-6 _2doi
050		4	_aRB155-155.8
050		4	_aQH431
072		7	_aMFN _2bicssc
072		7	_aMED107000 _2bisacsh
082	0	4	_a611.01816 _223
082	0	4	_a599.935 _223
100	1		_aValencia, C. Alexander. _eauthor.
245	1	0	_aNext Generation Sequencing Technologies in Medical Genetics _h[electronic resource] / _cby C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang.
264		1	_aNew York, NY : _bSpringer New York : _bImprint: Springer, _c2013.
300			_aXII, 94 p. 5 illus. in color. _bonline resource.
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
347			_atext file _bPDF _2rda
490	1		_aSpringerBriefs in Genetics, _x2191-5563
505	0		_aSanger sequencing principles, history and landmarks -- A survey of next-generation sequencing technologies -- A review of DNA enrichment technologies -- Application of next-generation sequencing to the diagnosis of genetic disorders a brief overview -- Next-generation sequencing-based noninvasive prenatal diagnosis -- Diagnosis of inherited neuromuscular disorders by next-generation sequencing -- Application of next-generation sequencing in hearing loss diagnosis -- Exome sequencing as a discovery and a diagnostic tool -- Challenges of next-generation sequencing-based molecular diagnostics.
520			_aThis book introduces readers to Next Generation Sequencing applications in medical genetics. The authors discuss the direct application of next-generation sequencing to medicine, specifically, laboratory medicine or molecular diagnostics. The first part of the book contains chapters on sanger sequencing, NGS technologies, targeted-amplification and capture, and exome sequencing. The second part of the book focuses on genetic disorders diagnoses by NGS, prenatal diagnosis, muscular dystrophies, mitochondrial disorders diagnosis, and challenges in molecular diagnosis. Recent developments and potential future trends in NGS sequencing applications are highlighted, as well.
650		0	_aMedicine.
650		0	_aHuman genetics.
650		0	_aMedical genetics.
650	1	4	_aBiomedicine.
650	2	4	_aHuman Genetics.
650	2	4	_aGene Function.
650	2	4	_aBiomedicine general.
700	1		_aPervaiz, M. Ali. _eauthor.
700	1		_aHusami, Ammar. _eauthor.
700	1		_aQian, Yaping. _eauthor.
700	1		_aZhang, Kejian. _eauthor.
710	2		_aSpringerLink (Online service)
773	0		_tSpringer eBooks
776	0	8	_iPrinted edition: _z9781461490319
830		0	_aSpringerBriefs in Genetics, _x2191-5563
856	4	0	_uhttp://dx.doi.org/10.1007/978-1-4614-9032-6
912			_aZDB-2-SBL
942			_2Dewey Decimal Classification _ceBooks
999			_c45066 _d45066