Together, these findings anchor ASD genetic vulnerability to specific neurodevelopmental lineages, epochs, and molecular substrates, and delineate the features that distinguish ASD from comorbidities with broader developmental impacts.
Rachel L. Smith, Yun-Dan Liao, L. Klei et al.· bioRxiv· 0 citations
RGP demonstrates that a research-based, patient-driven remote sequencing study can effectively bridge a diagnostic gap for rare disease families underserved in current clinical care and underscores the clinical utility of GS with frequent re-analysis.
A. O'Donnell-Luria, S. DiTroia, Melanie C. O'Leary et al.· medRxiv· 0 citations
A significantly elevated genome-wide rare CNV burden in EAS cases compared with controls is observed, underscoring the importance of increasing population diversity to fully capture the genetic underpinnings of schizophrenia.
Yu Chen, Qi-Di Feng, Max Lam et al.· Nature Genetics· 0 citations
It is found that damaging de novo single-nucleotide variants and frameshift indels explain 3.4% (95% CI: 2.1% - 4.7%) of autism variance on the observed scale.
A. Nadig, J. Fu, F. Satterstrom et al.· medRxiv· 0 citations
This work describes the full spectrum of genetic variation and shows that while 99% of the variants between any two genomes are single base-pair substitutions, 88% of the euchromatic variant base pairs are SVs, including insertions, deletions, duplications, and inversions.
J. Lin, J. Gustafson, J. Wertz et al.· medRxiv· 0 citations
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