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PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine.

Clinical genetics - 1 Feb 2025

Alfayyadh Mohammed M, Maksemous Neven, Sutherland Heidi G, Lea Rodney A, Griffiths Lyn R

Abstract excerpt

The exponential growth of next-generation sequencing (NGS) data requires innovative bioinformatics approaches to unravel the genetic underpinnings of diseases. Hemiplegic migraine (HM), a debilitating neurological disorder with a genetic basis, is one such condition that warrants further investigation. Notably, the genetic heterogeneity of HM is underscored by the fact that approximately two-thirds of patients...

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PMID: 39394929
DOI: 10.1111/cge.14625
PMCID: PMC11725560

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