Rare-disease genetics in the era of next-generation sequencing: discovery to translation.
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Ultra-rare Disease and Genomics-Driven Precision MedicineNext generation sequencing technology and genomewide data analysis: Perspectives for retinal researchGenetics of coronary artery disease and myocardial infarctionFunctional Insights into Chromatin Remodelling from Studies on CHARGE SyndromePhenotype-driven strategies for exome prioritization of human Mendelian disease genes.Clinical application of next-generation sequencing for Mendelian diseasesDisease insights through cross-species phenotype comparisonsUsing familial information for variant filtering in high-throughput sequencing studiesUse of contemporary genetics in cardiovascular diagnosisThe Human Phenotype Ontology in 2017New insights into the generation and role of de novo mutations in health and diseaseStandardization and quality management in next-generation sequencingNext generation sequencing: Coping with rare genetic diseases in ChinaHighly variable penetrance of abnormal phenotypes in embryonic lethal knockout micePALME: PAtients Like My gEnomeUnsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' viewsDysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsyExtracting research-quality phenotypes from electronic health records to support precision medicineFrom structural biology to designing therapy for inborn errors of metabolismIndividualized medicine from prewomb to tombComplex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.Computational approaches to study the effects of small genomic variations.A future of the model organism modelNew tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same geneWhole genome sequencing of one complex pedigree illustrates challenges with genomic medicineIntegrative data mining highlights candidate genes for monogenic myopathies.'You should at least ask'. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics researchThe utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndromeWhen "N of 2" is not enough: integrating statistical and functional data in gene discovery.Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study.A nutritional conditional lethal mutant due to pyridoxine 5'-phosphate oxidase deficiency in Drosophila melanogaster.PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseasesNext-generation diagnostics and disease-gene discovery with the ExomiserUse of model organism and disease databases to support matchmaking for human disease gene discovery.SLC25 Family Member Genetic Interactions Identify a Role for HEM25 in Yeast Electron Transport Chain Stability.Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.Reducing false-positive incidental findings with ensemble genotyping and logistic regression based variant filtering methodsFORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.Understanding rare disease pathogenesis: a grand challenge for model organisms.Automation of molecular-based analyses: a primer on massively parallel sequencing.
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Rare-disease genetics in the era of next-generation sequencing: discovery to translation.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
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artículo científico
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name
Rare-disease genetics in the era of next-generation sequencing: discovery to translation.
@en
type
label
Rare-disease genetics in the era of next-generation sequencing: discovery to translation.
@en
prefLabel
Rare-disease genetics in the era of next-generation sequencing: discovery to translation.
@en
P2093
P356
P1476
Rare-disease genetics in the era of next-generation sequencing: discovery to translation.
@en
P2093
Alex E MacKenzie
Dennis E Bulman
Megan R Vanstone
P2888
P304
P356
10.1038/NRG3555
P577
2013-09-03T00:00:00Z
P6179
1001268995