Ivan H. Iossifov

This study benchmarks Twist Genotyping-by-Sequencing against whole-genome sequencing in nuclear families, finding GxS slightly worse than GSA but still highly concordant with WGS.

GAIn provides a platform for generating reproducible genomic annotations using declarative pipelines and public repositories of genomic resources.

The GPF platform manages and analyzes large family genotypic and phenotypic data for autism research, enabling variant analysis and secure data sharing.

This study shows that common splice-regulatory variants can reduce the pathogenicity of rare exonic variants by modulating mRNA splicing.

Snakeobjects extends Snakemake to simplify workflow development, improve readability, and maintain portability and scalability.

The paper shows that cis-regulatory variation modifies the penetrance of coding variants, affecting disease risk in cancer and autism, and demonstrates this through experimental validation.

The paper shows damaging de novo mutations in ASD are linked to impaired motor skills, independent of IQ, and proposes a new classification of phenotypic severity based on these associations.

The paper identifies de novo intronic indels in autism target genes from simplex families and finds they contribute to at least 10% of simplex autism.

This study reports that 17% of advanced cancer patients have clinically relevant germline variants, with higher rates of cancer-associated variants compared to control cohorts.