The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.
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Gene Expression Signatures of Coronary Heart DiseaseMutations in NTRK3 suggest a novel signaling pathway in human congenital heart diseaseCowchock syndrome is associated with a mutation in apoptosis-inducing factorHereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic ParaplegiaA mosaic activating mutation in AKT1 associated with the Proteus syndromeMutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degenerationEvolution of human-specific neural SRGAP2 genes by incomplete segmental duplicationGray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3pRefinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorderWhole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndromeExome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growthPersonal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq ConsortiumAnnotating individual human genomesA comprehensive and scalable database search system for metaproteomicsEssential role of the m2R-RGS6-IKACh pathway in controlling intrinsic heart rate variabilityParticipant use and communication of findings from exome sequencing: a mixed-methods study.Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyRare missense neuronal cadherin gene (CDH2) variants in specific obsessive-compulsive disorder and Tourette disorder phenotypesPerformance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research ConsortiumResearch participants' attitudes towards the confidentiality of genomic sequence informationGenomic sequencing in clinical trialsSporadic autism exomes reveal a highly interconnected protein network of de novo mutationsDirect-to-Consumer Genetic and Genomic Testing: Preparing Nurse Practitioners for Genomic Healthcare.The post-genomic era of biological network alignmentReturn of incidental findings in genomic medicine: measuring what patients value--development of an instrument to measure preferences for information from next-generation testing (IMPRINT).Using exome data to identify malignant hyperthermia susceptibility mutations.Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselorsPsychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq projectDetermining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data.Genomic data in the electronic medical record: perspectives from a biobank community advisory board.Evaluation of variant detection software for pooled next-generation sequence dataSpaced Seed Data Structures for De Novo Assembly.Genetic research into bipolar disorder: the need for a research framework that integrates sophisticated molecular biology and clinically informed phenotype characterization.Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10Integrative DNA, RNA, and protein evidence connects TREML4 to coronary artery calcificationTailoring the process of informed consent in genetic and genomic researchNovel missense variants of ZFPM2/FOG2 identified in conotruncal heart defect patients do not impair interaction with GATA4.Genomic inheritances: disclosing individual research results from whole-exome sequencing to deceased participants' relativesIdentification of a novel LDLR mutation (c.261_262invGA, p.Trp87X): Importance of specifying DNA and protein mutations
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The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 14 July 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
The ClinSeq Project: piloting ...... research in genomic medicine.
@en
The ClinSeq Project: piloting ...... research in genomic medicine.
@nl
type
label
The ClinSeq Project: piloting ...... research in genomic medicine.
@en
The ClinSeq Project: piloting ...... research in genomic medicine.
@nl
prefLabel
The ClinSeq Project: piloting ...... research in genomic medicine.
@en
The ClinSeq Project: piloting ...... research in genomic medicine.
@nl
P2093
P2860
P50
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P1433
P1476
The ClinSeq Project: piloting ...... research in genomic medicine.
@en
P2093
Alan T Remaley
Alice C Young
Baishali Maskeri
Clesson Turner
Flavia M Facio
Gerard G Bouffard
Jamie K Teer
Nancy F Hansen
Paul Hwang
Pedro Cruz
P2860
P304
P356
10.1101/GR.092841.109
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P577
2009-07-14T00:00:00Z