Linkage disequilibrium (LD) information from one’s own dataset is considered optimal for downstream analyses such as statistical fine-mapping. However, the computational complexity ( computations for N variants) lead most studies to use external reference panels, such as from 1000 Genomes. To capture LD across all vari...
Rachit Kumar, Pankhuri Singhal, David Y. Zhang et al.· bioRxiv· 0 citations
It is shown that ML models integrating biliary-disease associated health records and Gamma glutamyltransferase can stratify risk of future CCA, and demonstrates the potential of data-driven models in personalised screening for hepatobiliary cancer.
F. van Haag, J. Clusmann, Paul-Henry Koop et al.· EBioMedicine· 0 citations
This represents the most comprehensive characterization to date of TRND, a novel neurodevelopmental disorder, defining its genotypic and phenotypic spectrum.
Sally Nijim, Mimi Kim, Melissa Denish et al.· Genetics in Medicine· 1 citation
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