000			03176nam a22004575c 4500
001			76071
003			ES-MaUEC
005			20230207040208.0
007			cr nn 008mamaa
008			131016s2013 xxu| s |||| 0|eng d
020			_a9781461490326
024	7		_a10.1007/978-1-4614-9032-6 _2doi
040			_aES-MaUEC
050		4	_aQP620 _b.V35 2013 EB
082	0	4	_a611.01816
082	0	4	_a599.935
100	1		_aValencia, C. Alexander _984926 _0Local
245	1	0	_aNext generation sequencing technologies in medical genetics _cby C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang
260			_aNew York _bSpringer International Publishing _c2013
300			_a1 recurso en línea (XII, 94 p.) _b5 ilustraciones en color
336			_aTexto (visual) _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
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
942			_2lcc _cLE
988			_aEBOOK, EBSPRINGERrevisado
650		7	_9140525 _aÁcidos nucleicos _0comprobar BNE19900986351 _2embne
650		7	_aGenética humana _0comprobar BNE19900986777 _2embne _9140562
700	1		_aPervaiz, M. Ali _984927 _0Local
700	1		_aHusami, Ammar _984928 _0Local
700	1		_aQian, Yaping _984929 _0Local
700	1		_aZhang, Kejian _984930 _0Local
830		0	_aSpringerBriefs in Genetics _x2191-5563 _9133178
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://link.springer.com/book/10.1007/978-1-4614-9032-6 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
901			_ai9781461490326
907			_a.b12816899 _b10-10-17 _c01-10-14
998			_am _a_alco _a_vill _b11-05-17 _cm _dz _eb _feng _gxxu _h0
945			_aQP620 .V35 2013 EB _g1 _ieBOOK _j0 _lmae _o- _pEUR0.00 _q- _r- _sb _t15 _u0 _v0 _w0 _x0 _y.i11546116 _z06-04-17
999			_c76071 _d76071 _x1