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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.…
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Keywords:
interpretation;
sequence variant;
curation;
clingen ... See more keywords
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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…
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Keywords:
sequence variant;
point;
paper;
sequence ... See more keywords
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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…
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Keywords:
reproduction traits;
nucleotide sequence;
sequence variant;
kdm3b gene ... See more keywords
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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,…
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Keywords:
set theoretical;
variant data;
tersect set;
utility ... See more keywords
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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…
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Keywords:
bispecific antibody;
sequence variant;
sequence;
light chain ... See more keywords