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
Letter of response to Professor Dalgleish regarding our paper Re: Long-term evaluation of anabolic and anti-resorptive agents in adults with familial osteoporosis due to pro205ala variant of the col1a1 gene
Sign Up to like & getrecommendations! Published in 2022 at "Osteoporosis International"
DOI: 10.1007/s00198-022-06332-y
Abstract: Dear Sir/Madam, We would like to thank Professor Dalgleish for his interest in our paper. In particular, we thank Professor Dalgleish for pointing out presentation errors on Fig. 1 in the supplementary tables and in… read more here.
Keywords: sequence variant; point; paper; sequence ... See more keywords
A 7-nt nucleotide sequence variant within the sheep KDM3B gene affects female reproduction traits.
Sign Up to like & getrecommendations! Published in 2021 at "Animal biotechnology"
DOI: 10.1080/10495398.2021.1929270
Abstract: Lysine demethylase 3B (KDM3B) gene is a histone demethylase, demonstrating specific demethylation of the histone H3 lysine 9. It was detected as a sheep reproductive candidate gene by genome-wide scans, and related studies also showed… read more here.
Keywords: reproduction traits; nucleotide sequence; sequence variant; kdm3b gene ... See more keywords
Tersect: a set theoretical utility for exploring sequence variant data
Sign Up to like & getrecommendations! Published in 2020 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btz634
Abstract: SUMMARY Comparing genomic features among a large panel of individuals across the same species is considered nowadays a core part of the bioinformatics analyses. This typically involves a series of complex theoretical expressions to compare,… read more here.
Keywords: set theoretical; variant data; tersect set; utility ... See more keywords
Genomic Editing of a Pathogenic Sequence Variant in ACTA2 Rescues Multisystemic Smooth Muscle Dysfunction Syndrome in Mice
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DOI: 10.1161/circulationaha.125.074218
Abstract: BACKGROUND: Vascular smooth muscle cells (SMCs), the predominant cell type in the aortic wall, play a crucial role in maintaining aortic integrity, blood pressure, and cardiovascular function. Vascular SMC contractility and function depend on ACTA2… read more here.
Keywords: muscle; muscle dysfunction; smooth muscle; sequence variant ... See more keywords
Characterization of light chain c-terminal extension sequence variant in one bispecific antibody
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Chemistry"
DOI: 10.3389/fchem.2022.994472
Abstract: Protein modifications such as post-translational modifications (PTMs) and sequence variants (SVs) occur frequently during protein biosynthesis and have received great attention by biopharma industry and regulatory agencies. In this study, an aberrant peak near light… read more here.
Keywords: bispecific antibody; sequence variant; sequence; light chain ... See more keywords
Community Composition and Diversity of β-Glucosidase Genes in Soils by Amplicon Sequence Variant Analysis
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DOI: 10.3390/genes16080900
Abstract: Cellulose, the most abundant organic polymer in soil, is degraded by the action of microbial communities. Cellulolytic taxa are widespread in soils, enhancing the biodegradation of cellulose by the synergistic action of different cellulase enzymes.… read more here.
Keywords: analysis; glucosidase; sequence variant; glucosidase genes ... See more keywords