ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation
Sign Up to like & getrecommendations! Published in 2018 at "Human Mutation"
DOI: 10.1002/humu.23645
Abstract: Genome‐scale sequencing creates vast amounts of genomic data, increasing the challenge of clinical sequence variant interpretation. The demand for high‐quality interpretation requires multiple specialties to join forces to accelerate the interpretation of sequence variant pathogenicity.… read more here.
Keywords: interpretation; sequence variant; curation; clingen ... See more keywords
CardioVAI: An automatic implementation of ACMG‐AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases
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DOI: 10.1002/humu.23665
Abstract: Variant interpretation for the diagnosis of genetic diseases is a complex process. The American College of Medical Genetics and Genomics, with the Association for Molecular Pathology, have proposed a set of evidence‐based guidelines to support… read more here.
Keywords: interpretation; diagnosis; implementation; cardiovai ... See more keywords
Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes
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DOI: 10.1002/humu.23996
Abstract: As comprehensive sequencing technologies gain widespread use, questions about so‐called secondary findings (SF) require urgent consideration. The American College of Medical Genetics and Genomics has recommended to report SF in 59 genes (ACMG SF v2.0)… read more here.
Keywords: arrhythmia syndromes; secondary findings; critical assessment; primary arrhythmia ... See more keywords
Variant Interpretation: Functional Assays to the Rescue.
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DOI: 10.1016/j.ajhg.2017.07.014
Abstract: Classical genetic approaches for interpreting variants, such as case-control or co-segregation studies, require finding many individuals with each variant. Because the overwhelming majority of variants are present in only a few living humans, this strategy… read more here.
Keywords: interpretation; functional assays; genetics; assays rescue ... See more keywords
Next generation protein structure predictions and genetic variant interpretation.
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DOI: 10.1016/j.jmb.2021.167180
Abstract: The need to make sense of the thousands of genetic variants uncovered every day in terms of pathology or biological mechanism is acute. Many insights into how genetic changes impact protein function can be gleaned… read more here.
Keywords: protein; structure predictions; structure; next generation ... See more keywords
Bridging the gap: the need for genomic and clinical -omics data integration and standardization in overcoming the bottleneck of variant interpretation
Sign Up to like & getrecommendations! Published in 2017 at "Expert Review of Precision Medicine and Drug Development"
DOI: 10.1080/23808993.2017.1322897
Abstract: ABSTRACT Introduction: The arrival of next-generation sequencing has brought about a revolution in genomic analysis of disease. One of the major bottlenecks delaying uptake of whole exome and whole genome analysis in the clinic is… read more here.
Keywords: medicine; standardization; interpretation; integration ... See more keywords
Knowledge bases and software support for variant interpretation in precision oncology.
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DOI: 10.1093/bib/bbab134
Abstract: Precision oncology is a rapidly evolving interdisciplinary medical specialty. Comprehensive cancer panels are becoming increasingly available at pathology departments worldwide, creating the urgent need for scalable cancer variant annotation and molecularly informed treatment recommendations. A… read more here.
Keywords: software; oncology; variant interpretation; knowledge bases ... See more keywords
CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase
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DOI: 10.1093/nar/gkac979
Abstract: Abstract CIViC (Clinical Interpretation of Variants in Cancer; civicdb.org) is a crowd-sourced, public domain knowledgebase composed of literature-derived evidence characterizing the clinical utility of cancer variants. As clinical sequencing becomes more prevalent in cancer management,… read more here.
Keywords: civicdb; variant interpretation; knowledgebase; interpretation ... See more keywords
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
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DOI: 10.1101/gr.226589.117
Abstract: Gene panel and exome sequencing have revealed a high rate of molecular diagnoses among diseases where the genetic architecture has proven suitable for sequencing approaches, with a large number of distinct and highly penetrant causal… read more here.
Keywords: epilepsy; medicine; variation; missense ... See more keywords
Distinguishing pathogenic mutations from background genetic noise in cardiology: The use of large genome databases for genetic interpretation
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DOI: 10.1111/cge.13066
Abstract: Advances in clinical genetic testing have led to increased insight into the human genome, including how challenging it is to interpret rare genetic variation. In some cases, the ability to detect genetic mutations exceeds the… read more here.
Keywords: interpretation; cardiology; distinguishing pathogenic; genome databases ... See more keywords
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2019-106759
Abstract: Advances in technology have led to a massive expansion in the capacity for genomic analysis, with a commensurate fall in costs. The clinical indications for genomic testing have evolved markedly; the volume of clinical sequencing… read more here.
Keywords: interpretation; group canvig; interpretation group; cancer variant ... See more keywords