Genetics

A deep learning model for prediction of autism status using whole-exome sequencing data.

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Effects of parental age and polymer composition on short tandem repeat de novo mutation rates.

Transgenerational transmission of post-zygotic mutations suggests symmetric contribution of first two blastomeres to human germline.

Gene expansions contributing to human brain evolution.

Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences.

Genetic and phenotypic heterogeneity in early neurodevelopmental traits in the Norwegian Mother, Father and Child Cohort Study.

Decomposition of phenotypic heterogeneity in autism reveals distinct and coherent genetic programs.

Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk.

CWAS-Plus: estimating category-wide association of rare noncoding variation from whole-genome sequencing data with cell-type-specific functional data.

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