Diagnosis of neurogenetic disorders : : contribution of next generation sequencing and deep phenotyping / / special issue editor, Alisdair McNeill.
The 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 diso...
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Year of Publication: | 2019 |
Language: | English |
Physical Description: | 1 electronic resource (94 p.) |
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Diagnosis of neurogenetic disorders : contribution of next generation sequencing and deep phenotyping / special issue editor, Alisdair McNeill. Diagnosis of Neurogenetic Disorders MDPI - Multidisciplinary Digital Publishing Institute 2019 1 electronic resource (94 p.) text txt rdacontent computer c rdamedia online resource cr rdacarrier The 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. English Creative Commons NonCommercial-NoDerivs https://creativecommons.org/licenses/https://mdpi.com/books/pdfview/book/1735 Unrestricted online access star Description based on online resource ; title from PDF title page (viewed on 03/18/2021) Neurogenetics. polymicrogyria neurodegenerative disease next generation sequencing (NGS) inborn error of metabolism genetic biomarker deep learning TUBA1A Alzheimer's disease (AD) ataxia risk prediction p.(Arg2His) movement science tubulin R2H diagnosis machine learning metal storage disorders amyotrophic lateral sclerosis (ALS) glucocerebrosidase Parkinsonism cerebellar hypoplasia Gaucher disease disease phenotyping tubulinopathy Parkinson's disease (PD) dementia Parkinson's disease 3-03921-610-4 McNeill, Alisdair, editor. |
language |
English |
format |
eBook |
author2 |
McNeill, Alisdair, |
author_facet |
McNeill, Alisdair, |
author2_variant |
a m am |
author2_role |
TeilnehmendeR |
title |
Diagnosis of neurogenetic disorders : contribution of next generation sequencing and deep phenotyping / |
spellingShingle |
Diagnosis of neurogenetic disorders : contribution of next generation sequencing and deep phenotyping / |
title_sub |
contribution of next generation sequencing and deep phenotyping / |
title_full |
Diagnosis of neurogenetic disorders : contribution of next generation sequencing and deep phenotyping / special issue editor, Alisdair McNeill. |
title_fullStr |
Diagnosis of neurogenetic disorders : contribution of next generation sequencing and deep phenotyping / special issue editor, Alisdair McNeill. |
title_full_unstemmed |
Diagnosis of neurogenetic disorders : contribution of next generation sequencing and deep phenotyping / special issue editor, Alisdair McNeill. |
title_auth |
Diagnosis of neurogenetic disorders : contribution of next generation sequencing and deep phenotyping / |
title_alt |
Diagnosis of Neurogenetic Disorders |
title_new |
Diagnosis of neurogenetic disorders : |
title_sort |
diagnosis of neurogenetic disorders : contribution of next generation sequencing and deep phenotyping / |
publisher |
MDPI - Multidisciplinary Digital Publishing Institute |
publishDate |
2019 |
physical |
1 electronic resource (94 p.) |
isbn |
3-03921-611-2 3-03921-610-4 |
callnumber-first |
Q - Science |
callnumber-subject |
QP - Physiology |
callnumber-label |
QP356 |
callnumber-sort |
QP 3356.22 |
illustrated |
Not Illustrated |
dewey-hundreds |
600 - Technology |
dewey-tens |
610 - Medicine & health |
dewey-ones |
612 - Human physiology |
dewey-full |
612.8 |
dewey-sort |
3612.8 |
dewey-raw |
612.8 |
dewey-search |
612.8 |
work_keys_str_mv |
AT mcneillalisdair diagnosisofneurogeneticdisorderscontributionofnextgenerationsequencinganddeepphenotyping AT mcneillalisdair diagnosisofneurogeneticdisorders |
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(CKB)4100000010106204 (oapen)https://directory.doabooks.org/handle/20.500.12854/45005 (EXLCZ)994100000010106204 |
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Diagnosis of neurogenetic disorders : contribution of next generation sequencing and deep phenotyping / |
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