OxTalks will soon move to the new Halo platform and will become 'Oxford Events.' There will be a need for an OxTalks freeze. This was previously planned for Friday 14th November – a new date will be shared as soon as it is available (full details will be available on the Staff Gateway).
In the meantime, the OxTalks site will remain active and events will continue to be published.
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Abstract:
In this talk I’ll presents methods for detecting, quantifying, and interpreting dominance, recessivity, and compound heterozygosity across population-scale cohorts. First, I introduce dominance LD score regression (d-LDSC), to estimate genome-wide “dominance heritability” from summary statistics while accommodating site-specific nonadditive effects. To boost power to detect recessive effects driven by rare variants, I present a framework that incorporates phase information to infer compound-heterozygous variants in exome data. In 175,587 UKB participants, this increases identification of damaging biallelic genotypes, and reveals recessive gene–phenotype associations, including bi-allelic ATP2C2 associated with earlier COPD onset. I further describe a federated recessive meta-analysis across six biobanks. Finally, I introduce an orthogonal recoding framework that plugs in to existing software to deviations from an additive model at the gene-level.
Short bio:
I am a SMARTbiomed Senior Research Fellow, based at the BDI and the Department of Statistics. I co-lead the Biobank Rare-Variant Consortium (BRaVa), a collaborative effort to analyse rare genetic variation at scale to identify the genetic underpinnings of complex traits and disorders. I also co-lead the (gen)omics theme at the BDI. I am particularly interested in combining genetic, phenotypic and functional data to better refine association signals and understand the genetic architecture of complex traits.
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Meeting ID: 639 3672 0258