Natalie Twine

icon indicating a website link https://www.researchgate.net/profile/Natalie_Twine

icon company CSIRO icon location Sydney, Australia icon location Big Data Bioinformatics Scientist https://bioinformatics.csiro.au/

Results 2 issues of Natalie Twine

optimise VariantSpark for large sample size (n>50K)

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VariantSpark is currently optimised for reasonally small sample sizes (n=100-5000) and large numbers of variants (e.g. 42 million) , ie. 'wide' datasets. Working on phenotypes in UKBB, e.g. CAD we...

add p-value calculation to HAIL implementation

Currently the p-value calculation (using AIR method) is not available in the HAIL implementation of VariantSpark. In order to integrate VariantSpark with downstream annotation and visualisation tools (such as CTGVL,...