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Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular
TLDR
Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends thatclinical molecular genetic testing should be performed in a Clinical Laboratory Improvement Amendments–approved laboratory, with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or the equivalent.
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
TLDR
It is recommended that laboratories performing clinical sequencing seek and report mutations of the specified classes or types in the genes listed here and encourage the creation of an ongoing process for updating these recommendations at least annually as further data are collected.
ACMG clinical laboratory standards for next-generation sequencing
TLDR
The American College of Medical Genetics and Genomics has developed the following professional standards and guidelines to assist clinical laboratories with the validation ofNext-generation sequencing methods and platforms, the ongoing monitoring of next- generation sequencing testing to ensure quality results, and the interpretation and reporting of variants found using these technologies.
Guidelines for investigating causality of sequence variants in human disease
TLDR
The key challenges of assessing sequence variants in human disease are discussed, integrating both gene-level and variant-level support for causality and guidelines for summarizing confidence in variant pathogenicity are proposed.
TRPA1 is a candidate for the mechanosensitive transduction channel of vertebrate hair cells
TLDR
Inhibition of TRPA1 protein expression in zebrafish and mouse inner ears inhibits receptor cell function, as assessed with electrical recording and with accumulation of a channel-permeant fluorescent dye.
ClinGen--the Clinical Genome Resource.
TLDR
A patient’s family pursues genetic testing that shows a “likely pathogenic” variant for the condition on the basis of a study in an original research publication, and a different variant is found that is determined to be pathogenic.
GJB2 mutations and degree of hearing loss: a multicenter study.
TLDR
The association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations was assessed and two genotypes had significantly more-severe HI than that of 35delG homozygotes.
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
TLDR
Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region of human chromosome 1q41 that has laminin epidermal growth factor and fibronectin type III motifs.
Assuring the quality of next-generation sequencing in clinical laboratory practice
TLDR
This research highlights the need to understand more fully the role of Epstein-Barr virus in infectious disease and its role in Hunter-LaSalle syndrome.
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity
TLDR
Clinical HCM genetic testing provides a definitive molecular diagnosis for many patients and provides cost savings to families, and an expanded gene panel encompassing more than 50 genes identified only a very small number of additional pathogenic variants beyond those identifiable in the original panels.
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