Article

Variant annotation across homologous proteins (“Paralogue Annotation”) identifies disease-causing missense variants with high precision, and is widely applicable across protein families

2026-07-01

Abstract excerpt

<title>Abstract</title> <p> Background Distinguishing pathogenic variants from those that are rare but benign remains a key challenge in clinical genetics, especially for variants not previously observed and characterised in humans. <italic>In vitro</italic> and <italic>in vivo</italic> functional characterisation are typically resource-intensive, and model systems may not accurately predict influence on hu...

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Literature Corpus work: 1c12ad8b-0f6b-505f-a42a-5e14aeafb7e5
DOI: 10.21203/rs.3.rs-10057044/v1

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