These findings demonstrate that leveraging whole-genome sequencing in large-scale biobanks enables the identification of rare protein-coding variants, genes, and gene sets associated with AML.
The GAVURD system serves an important role in prioritizing candidate non-coding causal variants for unresolved rare disease that can serve as the high value and informed focus of additional functional follow-up studies.
Anthony M. Gacita, M. Pahl, Manuel Diz Torres et al.· bioRxiv· 0 citations
Despite the introduction of genome sequencing (GS) for rare disease diagnostics, a genetic cause is not identified in most patients. Here, we explored the potential of proteomics to improve the diagnostic yield in 424 patients with rare diseases from the 100,000 Genomes Project (100kGP) without a genetic diagnosis. Ser...
J. Carrasco-Zanini, J. Andrade, M. Pietzner et al.· Science Translational Medici...· 0 citations
Exome-wide rare variant association analyses across 70+ cancer types using data from more than 729,000 participants from the UKB and All of Us Research Program cohorts point to a larger impact on overall cancer risk than previously appreciated.
A. H. Suger, T. Harrison, Jiachen Zhang et al.· HGG advances· 0 citations
Rare variants in MSH6 and BRCA2 are significantly associated with increased HCC risk, revealing a previously unconfirmed role for DNA repair genes in HCC susceptibility across ancestrally diverse populations and may inform genetic risk stratification and surveillance strategies.
A. Garófalo, Perapa Chotiprasidhi, Josephine P. Johnson et al.· JHEP Reports· 0 citations
Integrating statistical genetics, regulatory prediction, and locus‐directed experiments prioritized SMAD9, MAP3K2, FADS1, and ACTR1B as CRC susceptibility genes, and placed experimental bounds on the proposed MAP3K2 and ACTR1B mechanisms.
Chengguang Hu, Guang Yang, Han Xiong et al.· Human Mutation· 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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