SFARI | Topic: Genetics

De novo variant calling identifies cancer mutation profiles in the 1000 Genomes Project.

An approach to gene-based testing accounting for dependence of tests among nearby genes.

Statistical analysis of autism phenotypic and genotypic data

Abba Krieger and colleagues serve as statistical consultants to the Simons Foundation. In this role, they analyze autism data generated by SFARI. The current funding will be used to support statistical analyses on phenotypic and genotypic data from SPARK.

Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.

utr.annotation: A tool for annotating genomic variants that could influence post-transcriptional regulation.

Dendritic integration dysfunction in neurodevelopmental disorders.

Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders.

Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms.

Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome.

A large-scale investigation into the role of classical HLA loci in multiple types of severe infections, with a focus on overlaps with autoimmune and mental disorders.