Clinical exome sequencing in daily practice: 1,000 patients and beyond

Clinical exome sequencing in daily practice: 1,000 patients and beyond

Item
http://www.wikidata.org/entity/Q37689764
Phenotype-driven strategies for exome prioritization of human Mendelian disease genes.Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' viewsStakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies.Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis PigmentosaClinical exome sequencing in neurogenetic and neuropsychiatric disordersWhole-exome sequencing as a diagnostic tool: current challenges and future opportunities.Unsolved challenges in pediatric whole-exome sequencing: A literature analysis.Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.The challenges of the expanded availability of genomic information: an agenda-setting paper.The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing.Assessment of clinical workload for general and specialty genetic counsellors at an academic medical center: a tool for evaluating genetic counselling practices.Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study.Clinical exome sequencing in France and Quebec: what are the challenges? What does the future hold?Detecting Copy Number Variation via Next Generation Technology
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Clinical exome sequencing in daily practice: 1,000 patients and beyond

Item
http://www.wikidata.org/entity/Q37689764
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 24 January 2014
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Clinical exome sequencing in daily practice: 1,000 patients and beyond
@en
Clinical exome sequencing in daily practice: 1,000 patients and beyond.
@nl
type
label
Clinical exome sequencing in daily practice: 1,000 patients and beyond
@en
Clinical exome sequencing in daily practice: 1,000 patients and beyond.
@nl
prefLabel
Clinical exome sequencing in daily practice: 1,000 patients and beyond
@en
Clinical exome sequencing in daily practice: 1,000 patients and beyond.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P6179
P698
P932
P356
P1433
P1476
Clinical exome sequencing in daily practice: 1,000 patients and beyond
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P6179
P698
P932