| 000 | 03270nam a22005535i 4500 | ||
|---|---|---|---|
| 001 | vtls000483979 | ||
| 003 | RU-ToGU | ||
| 005 | 20210922065820.0 | ||
| 007 | cr nn 008mamaa | ||
| 008 | 140715s2013 xxu| s |||| 0|eng d | ||
| 020 |
_a9781461490326 _9978-1-4614-9032-6 |
||
| 024 | 7 |
_a10.1007/978-1-4614-9032-6 _2doi |
|
| 035 | _ato000483979 | ||
| 040 |
_aSpringer _cSpringer _dRU-ToGU |
||
| 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. _9414696 |
|
| 245 | 1 | 0 |
_aNext Generation Sequencing Technologies in Medical Genetics _helectronic resource _cby C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang. |
| 260 |
_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 |
||
| 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. _9566220 |
|
| 650 | 0 |
_aHuman genetics. _9566248 |
|
| 650 | 0 |
_aMedical genetics. _9412718 |
|
| 650 | 1 | 4 |
_aBiomedicine. _9566246 |
| 650 | 2 | 4 |
_aHuman Genetics. _9566249 |
| 650 | 2 | 4 |
_aGene Function. _9412719 |
| 650 | 2 | 4 |
_aBiomedicine general. _9566281 |
| 700 | 1 |
_aPervaiz, M. Ali. _eauthor. _9414697 |
|
| 700 | 1 |
_aHusami, Ammar. _eauthor. _9414698 |
|
| 700 | 1 |
_aQian, Yaping. _eauthor. _9414699 |
|
| 700 | 1 |
_aZhang, Kejian. _eauthor. _9414700 |
|
| 710 | 2 |
_aSpringerLink (Online service) _9143950 |
|
| 773 | 0 | _tSpringer eBooks | |
| 830 | 0 |
_aSpringerBriefs in Genetics, _9413361 |
|
| 856 | 4 | 0 | _uhttp://dx.doi.org/10.1007/978-1-4614-9032-6 |
| 912 | _aZDB-2-SBL | ||
| 999 | _c356863 | ||