Article

Using somatic data to aid germline clinical variant interpretation in developmental disorders

2026-06-21

Abstract excerpt

Accurate interpretation of rare germline variants remains a major challenge in developmental disorders (DD). Somatic mutation data represent a largely untapped source of evidence for germline variant classi-fication. Identical or nearby mutations that drive positive selection when present in somatic tissues can cause developmental disorders when present in the germline. We integrated somatic mutation data from the...

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Literature Corpus work: bd0bfb40-c08f-5d9a-832e-4ad7c3462c75
DOI: 10.64898/2026.06.17.732808

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