about
"Genotype-first" approaches on a curious case of idiopathic progressive cognitive declineAssessing the Costs and Cost-Effectiveness of Genomic SequencingNeurogenomics of speech and language disorders: the road aheadWhole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesisNEK1 variants confer susceptibility to amyotrophic lateral sclerosisWhole-genome sequencing in an autism multiplex familyExome sequencing in suspected monogenic dyslipidemias.Estimation of copy number alterations from exome sequencing data.Performance comparison of SNP detection tools with illumina exome sequencing data--an assessment using both family pedigree information and sample-matched SNP array dataEffective filtering strategies to improve data quality from population-based whole exome sequencing studies.GrabBlur--a framework to facilitate the secure exchange of whole-exome and -genome SNV data using VCF files.Using population data for assessing next-generation sequencing performanceAn integrated approach for analyzing clinical genomic variant data from next-generation sequencing.Expanded genetic codes in next generation sequencing enable decontamination and mitochondrial enrichment.Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity.Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosaWhole-exome sequencing and its impact in hereditary hearing lossGene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer type X.Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencingFLAGS, frequently mutated genes in public exomes.Genome-wide patterns of genetic variation in two domestic chickens.A systematic evaluation of hybridization-based mouse exome capture systemAccurate detection of subclonal single nucleotide variants in whole genome amplified and pooled cancer samples using HaloPlex target enrichment.Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes.Rare variant association studies: considerations, challenges and opportunities.Plant exomics: concepts, applications and methodologies in crop improvement.NGS catalog: A database of next generation sequencing studies in humans.The road from next-generation sequencing to personalized medicine.Exome sequencing identifies novel compound heterozygous IFNA4 and IFNA10 mutations as a cause of impaired function in Crohn's disease patients.A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.Identification of a novel p.Q1772X ANK1 mutation in a Korean family with hereditary spherocytosis.Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.Exome screening to identify loss-of-function mutations in the rhesus macaque for development of preclinical models of human disease.Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.The missing indels: an estimate of indel variation in a human genome and analysis of factors that impede detection.On the future of genetic risk assessment.Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research.Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders
P2860
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P2860
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
@es
name
Unlocking Mendelian disease using exome sequencing.
@en
Unlocking Mendelian disease using exome sequencing.
@nl
type
label
Unlocking Mendelian disease using exome sequencing.
@en
Unlocking Mendelian disease using exome sequencing.
@nl
prefLabel
Unlocking Mendelian disease using exome sequencing.
@en
Unlocking Mendelian disease using exome sequencing.
@nl
P2860
P50
P921
P356
P1433
P1476
Unlocking Mendelian disease using exome sequencing.
@en
P2093
Han G Brunner
P2860
P2888
P356
10.1186/GB-2011-12-9-228
P577
2011-09-14T00:00:00Z
P5875
P6179
1019772105