Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants.
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Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelinesClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.A comparison of cosegregation analysis methods for the clinical setting.Distinguishing pathogenic mutations from background genetic noise in cardiology: the use of large genome databases for genetic interpretation.Power of pedigree likelihood analysis in extended pedigrees to classify rare variants of uncertain significance in cancer risk genes.Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies.Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes.The genetic profile of Leber congenital amaurosis in an Australian cohort.Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.Familial STAG2 germline mutation defines a new human cohesinopathy.Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy.Sudden Arrhythmic Death During Exercise: A Post-Mortem Genetic Analysis.Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.Precision oncology in the age of integrative genomics.Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant
P2860
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P2860
Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants.
@en
Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants.
@nl
type
label
Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants.
@en
Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants.
@nl
prefLabel
Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants.
@en
Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants.
@nl
P2860
P1476
Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants.
@en
P2093
Brian L Browning
P2860
P304
P356
10.1016/J.AJHG.2016.04.003
P407
P577
2016-05-26T00:00:00Z