Interventional genetics (IG) refers to the development of therapies aimed at treating the underlying genetic cause of disease. Diagnostic sequencing has advanced to the point where genetic results can be returned within weeks, meaning that therapeutically actionable variants associated with specific diseases could be d...
Julia Macintosh, Khadije Jizi, Ying Zhang et al.· American Journal of Human Ge...· 0 citations
Pleiotropic and monotonic effects of gene dosage are central to understanding comorbidities in developmental pediatric and psychiatric disorders, yet the underlying biological processes are not well characterized. Here we develop a functional burden analysis to investigate the association of all protein-coding copy-num...
Sayeh Kazem, Kuldeep Kumar, J. Yang et al.· Nature Communications· 0 citations
Motivation Copy-number variants (CNVs) contribute to human disease and population trait variation. CNV detection from large whole-genome sequencing cohorts remains computationally demanding, as most methods require BAM or CRAM files. Genomic VCF (gVCF) files are smaller, routinely generated by standard variant-calling...
Evidence is found for additive effects of other genetic factors in contributing to some latent co-occurring neurodevelopmental and mental health conditions in autism.
Adeniran Okewole, Vincent-Raphaël Bourque, M. Koko et al.· Molecular Psychiatry· 1 citation
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