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Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

28 Jan 2022

Abstract excerpt

There is a strong genetic contribution to Amyotrophic lateral sclerosis (ALS) risk, with heritability estimates of up to 60%. Both Mendelian and small effect variants have been identified, but in common with other conditions, such variants only explain a little of the heritability. Genomic structural variation might account for some of this otherwise unexplained heritability. We therefore investigated association...

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PMID: 35091648
DOI: 10.1038/s41525-021-00267-9

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