Article

Regional Collapsing of Rare Variation Implicates Specific Genic Regions in ALS

2018-07-24

Abstract excerpt

Large-scale sequencing efforts in amyotrophic lateral sclerosis (ALS) have implicated novel genes using gene-based collapsing methods. However, pathogenic mutations may be concentrated in specific genic regions. To address this, we developed two collapsing strategies, one focuses rare variation collapsing on homology-based protein domains as the unit for collapsing and another gene-level approach that, unlike stan...

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Literature Corpus work: 254f06ab-f89d-5051-987a-d45ae4910736
DOI: 10.1101/375774

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