Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.
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Human molecular cytogenetics: From cells to nucleotidesStructural variation mutagenesis of the human genome: Impact on disease and evolution.Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental resultsHomozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.Association study and expression analysis of CYP4A11 gene copy number variation in Chinese cattlePGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.The clinical significance of small copy number variants in neurodevelopmental disordersMechanisms of x chromosome dosage compensation.Copy number variations in high and low fertility breeding boars.Assessing structural variation in a personal genome-towards a human reference diploid genome.Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.Secondary findings and carrier test frequencies in a large multiethnic sample.Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyCopy-Number Variation Contributes to the Mutational Load of Bardet-Biedl SyndromeThe challenges and importance of structural variation detection in livestockCopy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts.Pathogenic or not? Assessing the clinical relevance of copy number variants.Exome sequencing and whole genome sequencing for the detection of copy number variation.Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes.Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disordersClinical genomics: from a truly personal genome viewpoint.Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.An estimate of the average number of recessive lethal mutations carried by humans.Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects.Identification of novel candidate disease genes from de novo exonic copy number variants.Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray.Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.Genomic disorders 20 years on-mechanisms for clinical manifestations.MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants.Clinical interpretation of copy number variants in the human genome.WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease
P2860
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P2860
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 16 May 2013
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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
Deletions of recessive disease ...... s and disease-causing alleles.
@en
Deletions of recessive disease ...... s and disease-causing alleles.
@nl
type
label
Deletions of recessive disease ...... s and disease-causing alleles.
@en
Deletions of recessive disease ...... s and disease-causing alleles.
@nl
prefLabel
Deletions of recessive disease ...... s and disease-causing alleles.
@en
Deletions of recessive disease ...... s and disease-causing alleles.
@nl
P2093
P2860
P50
P356
P1433
P1476
Deletions of recessive disease ...... es and disease-causing alleles
@en
P2093
Ankita Patel
Arthur L Beaudet
Brett C Baggett
James R Lupski
Mitchell M Rao
Patricia M Hixson
Pawel Stankiewicz
Sau Wai Cheung
Seema R Lalani
P2860
P304
P356
10.1101/GR.156075.113
P577
2013-05-16T00:00:00Z