Exome sequencing: dual role as a discovery and diagnostic tool.
about
Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvementJumping on the Train of Personalized Medicine: A Primer for Non-Geneticist Clinicians: Part 2. Fundamental Concepts in Genetic EpidemiologyApplications of Next-generation Sequencing in Systemic Autoimmune DiseasesGenetics in dystonia: an updateDECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disordersWhat we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseasesIdentifying disease mutations in genomic medicine settings: current challenges and how to accelerate progressForward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signalingNovel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-SaguenayExome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt diseaseThe genetic basis of music abilityTowards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol.Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects.Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.23andMe: a new two-sided data-banking market modelExome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathyManaging Expectational Language: Translational genetic professionals consider the clinical potential of next-generation sequencing technologies.A novel COL4A5 mutation identified in a Chinese Han family using exome sequencingValidation and assessment of variant calling pipelines for next-generation sequencing.Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer type X.EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics.Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encounteredCharacterisation and validation of insertions and deletions in 173 patient exomesUse of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal DisordersGlobal Carrier Rates of Rare Inherited Disorders Using Population Exome SequencesA new tool for prioritization of sequence variants from whole exome sequencing data.Dermatopathology - the link between ancillary techniques and clinical lesions.Exome capture from the spruce and pine giga-genomes.Monogenic models: what have the single gene disorders taught us?Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approachMRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.Hierarchical approaches for systems modeling in cardiac development.Clinical exome sequencing in neurologic disease.Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa.Sequence capture by hybridization to explore modern and ancient genomic diversity in model and nonmodel organisms.Next-generation sequencing for disorders of low and high bone mineral density.CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study.Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.
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Exome sequencing: dual role as a discovery and diagnostic tool.
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
@sq
artículo científico
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name
Exome sequencing: dual role as a discovery and diagnostic tool.
@en
Exome sequencing: dual role as a discovery and diagnostic tool.
@nl
type
label
Exome sequencing: dual role as a discovery and diagnostic tool.
@en
Exome sequencing: dual role as a discovery and diagnostic tool.
@nl
prefLabel
Exome sequencing: dual role as a discovery and diagnostic tool.
@en
Exome sequencing: dual role as a discovery and diagnostic tool.
@nl
P2860
P50
P356
P1433
P1476
Exome sequencing: dual role as a discovery and diagnostic tool.
@en
P2093
Chee-Seng Ku
Mengchu Wu
P2860
P356
10.1002/ANA.22647
P577
2012-01-01T00:00:00Z