Customized de novo mutation detection for any variant calling pipeline: SynthDNM.
Genetics
De novo human brain enhancers created by single nucleotide mutations.
Polygenic profiles define aspects of clinical heterogeneity in ADHD.
Interpreting polygenic score effects in sibling analysis.
A method to delineate de novo missense variants across pathways prioritizes genes linked to autism.
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.
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