Characterizing variants of unknown significance in rhodopsin: A functional genomics approach
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
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
Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6248
Abstract: A couple of Ashkenazi Jewish descent was referred for an early anatomy scan at 14 + 2 weeks of gestation following a previous pregnancy termination due to posterior encephalocele and enlarged kidneys. The index pregnancy… read more here.
Keywords: tmem67 variant; intronic tmem67; significance likely; upgrading intronic ... See more keywords
The implication of ‘unknown significance’ variants in next‐generation sequencing in diagnosis and donor selection for allogenic haematopoietic stem cell transplantation. Report of a case of myelodysplastic syndrome with a polymorphism in the tyrosine kinase 2 (TYK2) gene
Sign Up to like & getrecommendations! Published in 2020 at "British Journal of Haematology"
DOI: 10.1111/bjh.16590
Abstract: In recent years, the increasing availability and implementation by clinical centres of next-generation sequencing (NGS) technology in the field of haematological neoplasia have led to advances in the diagnostic and prognostic stratification of patients. The… read more here.
Keywords: unknown significance; kinase; case; significance ... 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
Sign Up to like & getrecommendations! Published in 2022 at "PLOS ONE"
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
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
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
Sign Up to like & getrecommendations! Published in 2022 at "Biomolecules"
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