LEADER 02729nam 22004213a 450 001 9910367751303321 005 20250203235433.0 010 $a9783039216116 010 $a3039216112 024 8 $a10.3390/books978-3-03921-611-6 035 $a(CKB)4100000010106204 035 $a(oapen)https://directory.doabooks.org/handle/20.500.12854/45005 035 $a(ScCtBLL)4d01ecbc-8c9d-4b99-96d5-0ab9b0b37b91 035 $a(oapen)doab45005 035 $a(EXLCZ)994100000010106204 100 $a20250203i20192019 uu 101 0 $aeng 135 $aurmn|---annan 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 00$aDiagnosis of Neurogenetic Disorders : $eContribution of Next Generation Sequencing and Deep Phenotyping /$fAlisdair McNeill 210 $cMDPI - Multidisciplinary Digital Publishing Institute$d2019 210 1$aBasel, Switzerland :$cMDPI,$d2019. 215 $a1 electronic resource (94 p.) 311 08$a9783039216109 311 08$a3039216104 330 $aThe contribution of genomic variants to the aetiopathogenesis of both paediatric and adult neurological disease is being increasingly recognized. The use of next-generation sequencing has led to the discovery of novel neurodevelopmental disorders, as exemplified by the deciphering developmental disorders (DDD) study, and provided insight into the aetiopathogenesis of common adult neurological diseases. Despite these advances, many challenges remain. Correctly classifying the pathogenicity of genomic variants from amongst the large number of variants identified by next-generation sequencing is recognized as perhaps the major challenge facing the field. Deep phenotyping (e.g., imaging, movement analysis) techniques can aid variant interpretation by correctly classifying individuals as affected or unaffected for segregation studies. The lack of information on the clinical phenotype of novel genetic subtypes of neurological disease creates limitations for genetic counselling. Both deep phenotyping and qualitative studies can capture the clinical and patient's perspective on a disease and provide valuable information. This Special Issue aims to highlight how next-generation sequencing techniques have revolutionised our understanding of the aetiology of brain disease and describe the contribution of deep phenotyping studies to a variant interpretation and understanding of natural history. 606 $aNeurogenetics 615 0$aNeurogenetics. 676 $a612.8 700 $aMcNeill$b Alisdair$01786253 801 0$bScCtBLL 801 1$bScCtBLL 906 $aBOOK 912 $a9910367751303321 996 $aDiagnosis of Neurogenetic Disorders$94317684 997 $aUNINA