Article

Pathogenicity evaluation of coding germline variants identifies rare alleles enriched in hematological patients of a founder population

2024-10-23

Abstract excerpt

<h4>Background</h4> The clinical significance of most germline variants in hematological malignancies (HMs) remains unknown. This presents a challenge in the clinical setting, as the inability to accurately detect pathogenic variants can influence therapeutic decisions. Population isolates have been shown to be beneficial in pathogenic variant discovery due to presence of rare deleterious variants in relatively hi...

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Literature Corpus work: ed5a4c54-5036-5b80-8c1d-1c6d242302e1
DOI: 10.1101/2024.10.23.24315723

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