LEADER 03058oam 2200505 450 001 9910437836903321 005 20190911103512.0 010 $a1-4614-9032-4 024 7 $a10.1007/978-1-4614-9032-6 035 $a(OCoLC)863055426 035 $a(MiFhGG)GVRL6XML 035 $a(EXLCZ)993710000000024313 100 $a20130830d2013 uy 0 101 0 $aeng 135 $aurun|---uuuua 181 $ctxt 182 $cc 183 $acr 200 10$aNext generation sequencing technologies in medical genetics /$fC. Alexander Valencia [and four others] 205 $a1st ed. 2013. 210 1$aNew York :$cSpringer,$d2013. 215 $a1 online resource (xii, 94 pages) $ccolor illustrations 225 1 $aSpringerBriefs in Genetics,$x2191-5563 300 $a"ISSN: 2191-5563." 311 $a1-4614-9031-6 320 $aIncludes bibliographical references. 327 $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. 330 $aThis book introduces readers to Next Generation Sequencing applications in medical genetics. The authors discuss the direct application of next-generation sequencing to medicine, specifically, laboratory medicine or molecular diagnostics. The first part of the book contains chapters on sanger sequencing, NGS technologies, targeted-amplification and capture, and exome sequencing. The second part of the book focuses on genetic disorders diagnoses by NGS, prenatal diagnosis, muscular dystrophies, mitochondrial disorders diagnosis, and challenges in molecular diagnosis. Recent developments and potential future trends in NGS sequencing applications are highlighted, as well. 410 0$aSpringerBriefs in genetics. 606 $aNucleotide sequence$xData processing 606 $aMedical genetics$xTechnique 615 0$aNucleotide sequence$xData processing. 615 0$aMedical genetics$xTechnique. 676 $a611.01816 700 $aValencia$b C. Alexander$4aut$4http://id.loc.gov/vocabulary/relators/aut$01065521 702 $aPervaiz$b M. Ali$4aut$4http://id.loc.gov/vocabulary/relators/aut 702 $aHusami$b Ammar$4aut$4http://id.loc.gov/vocabulary/relators/aut 702 $aQian$b Yaping$4aut$4http://id.loc.gov/vocabulary/relators/aut 702 $aZhang$b Kejian$4aut$4http://id.loc.gov/vocabulary/relators/aut 801 0$bMiFhGG 801 1$bMiFhGG 906 $aBOOK 912 $a9910437836903321 996 $aNext Generation Sequencing Technologies in Medical Genetics$92546218 997 $aUNINA