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Genome-Wide Significance Reconsidered: Low-Frequency Variants and Regulatory Networks in Autism

2026-02-12 genetic and genomic medicine Title + abstract only
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Low-frequency variants (LFVs), defined by minor allele frequencies (MAF) of 1-5%, occupy the gap between common and rare variants in both frequency and effect size. The conventional genome-wide association study (GWAS) significance threshold (5x10-) is overly conservative for LFVs, which account for more than 25% of variants in GWAS. This limitation may obscure meaningful associations in highly heritable yet genetically complex disorders such as autism spectrum disorder (ASD). We hypothesize tha...

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