Genetics

Repeat polymorphisms in non-coding DNA underlie top genetic risk loci for glaucoma and colorectal cancer.

Evidence for contribution of common genetic variants within chromosome 8p21.2-8p21.1 to restricted and repetitive behaviors in autism spectrum disorders.

High body mass polygenic risk in mothers enhances de novo functional mutations in epigenetic and microtubule gene pathways in their offspring with autism spectrum disorder.

Focus on your locus with a massively parallel reporter assay.

Measuring transcription factor binding and gene expression using barcoded self-reporting transposon calling cards and transcriptomes.

GATK-gCNV: A rare copy number variant discovery algorithm and its application to exome sequencing in the UK Biobank.

Phenotype and genetic analysis of data collected within the first year of NeuroDev.

Isoform-level transcriptome-wide association uncovers extensive novel genetic risk mechanisms for neuropsychiatric disorders in the human brain.

A cross-disorder dosage sensitivity map of the human genome.

Deep embedded clustering by relevant scales and genome-wide association study in autism.

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