Sneha Ralli

Aug 16, 2023 | biorxiv.org | Sneha Ralli |Tariq Vira |Carla Daniela Robles-Espinoza |David Adams

AbstractIdentifying genetic susceptibility factors for complex disorders remains a challenging task. We have developed a weights-based pipeline to prioritize variants and genes in collections of small and large pedigrees where genetic heterogeneity is likely, but biological commonalities are plausible.

Jun 28, 2023 | journals.plos.org | Simon FRASER |BC Cancer |Samantha Jones |Sneha Ralli

Gene-based burden analysisBurden tests were performed at the gene and pathway levels to identify if there was a higher burden of rare variants in lymphoid cancer cases than in controls from GnomAD exomes and ExAC. First, we analyzed genes with one or more variant counts in cases.