Article

Evaluating the impact of compound heterozygosity involving microdeletions and sequence-level variants: findings in autism

2025-10-21

Abstract excerpt

Compound heterozygous events involving a chromosome deletion and on the remaining allele a functional DNA sequence-level variant can underpin a range of medical conditions. Most large-scale genetic studies do not include a systematic analysis of such compound heterozygous deletion (DelCH) events. We developed three frameworks: i) traditional burden analysis; ii) deletion-matched burden analysis; and iii) transmiss...

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Literature Corpus work: 419f1d5e-0a10-5ff8-8675-64572dca12df
DOI: 10.1101/2025.10.17.25338215

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