Characterizing variants of unknown significance in rhodopsin: A functional genomics approach
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DOI: 10.1002/humu.23762
Abstract: Characterizing the pathogenicity of DNA sequence variants of unknown significance (VUS) is a major bottleneck in human genetics, and is increasingly important in determining which patients with inherited retinal diseases could benefit from gene therapy.… read more here.
Keywords: unknown significance; variants unknown; characterizing variants; rhodopsin ... See more keywords
Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence
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DOI: 10.1371/journal.pone.0200008
Abstract: Given the large and expanding quantity of publicly available sequencing data, it should be possible to extract incidence information for monogenic diseases from allele frequencies, provided one knows which mutations are causal. We tested this… read more here.
Keywords: incidence; unknown significance; variants unknown; sanfilippo type ... See more keywords
Hereditary variants of unknown significance in African American women with breast cancer
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DOI: 10.1371/journal.pone.0273835
Abstract: Expanded implementation of genetic sequencing has precipitously increased the discovery of germline and somatic variants. The direct benefit of identifying variants in actionable genes may lead to risk reduction strategies such as increased surveillance, prophylactic… read more here.
Keywords: american women; significance; african american; cancer ... See more keywords
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance
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DOI: 10.3389/fgene.2022.782685
Abstract: Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative disorders with autosomal dominant inheritance. Genetic testing for SCA leads to diagnosis, prognosis and risk assessment for patients and their family members. While advances in sequencing… read more here.
Keywords: follow studies; variants unknown; spinocerebellar ataxia; unknown significance ... See more keywords
The Relevance of Variants With Unknown Significance for Autism Spectrum Disorder Considering the Genotype–Phenotype Interrelationship
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Psychiatry"
DOI: 10.3389/fpsyt.2019.00409
Abstract: Several efforts in basic and clinical research have been contributing to unveiling the genetics behind autism spectrum disorders (ASD). However, despite these advancements, many individuals diagnosed with ASD and related neuropsychiatric conditions have been genetically… read more here.
Keywords: unknown significance; variants unknown; autism spectrum;
Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes
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DOI: 10.3390/biom12101417
Abstract: The diffusion of next-generation sequencing (NGS)-based approaches allows for the identification of pathogenic mutations of cardiomyopathies and channelopathies in more than 200 different genes. Since genes considered uncommon for a clinical phenotype are also now… read more here.
Keywords: cardiomyopathies channelopathies; uncommon genes; next generation; variants unknown ... See more keywords
Clinical significance of variants of unknown significances in BRCA genes
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Gynecologic Oncology"
DOI: 10.3802/jgo.2019.30.e80
Abstract: https://ejgo.org Previous studies have shown that up to 15% of BRCA gene testing in index cases of high-risk families identifies one or more variants of uncertain significance (VUSs) in the absence of any pathogenic variants… read more here.
Keywords: significances brca; variants unknown; significance variants; unknown significances ... See more keywords