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Evaluation of <i>in silico</i> predictors on short nucleotide variants in <i>HBA1, HBA2</i> and <i>HBB</i> associated with haemoglobinopathies

2022-04-09

Abstract excerpt

<h4>Introduction</h4> Haemoglobinopathies are the commonest monogenic diseases worldwide and are caused by variants in the globin gene clusters. With over 2400 variants detected to date, their interpretation using the ACMG/AMP guidelines is challenging, with computational evidence able to provide valuable input about their functional annotation. While many in silico predictors have already been developed, their...

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Literature Corpus work
e859e837-b06c-5c39-832a-7d5b1f06b05a
DOI
10.1101/2022.04.07.484934
Open publication

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Evaluation of <i>in silico</i> predictors on short nucleotide variants in <i>HBA1, HBA2</i> and <i>HBB</i> associated with haemoglobinopathiesDOI 10.1101/2022.04.07.484934
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