Shruti Marwaha

icon indicating a website link http://homepages.uc.edu/~marwahsi/ icon indicating an email [email protected]

icon company Academia icon location Mountain View icon location Computational Biologist with experience in Next Gen Sequencing, Machine Learning, Mathematical Modeling.

Results 7 comments of Shruti Marwaha

SpliceAI

Hi Damian, I was wondering if the current (or future version) of exomiser uses SpliceAI? If the current version does, what parameter should I be using to include it in...

SpliceAI

Thanks Damian.

Virtual gene panels

Hi Damian & Jules, I am interested in providing a gene list as an input to exomiser. I am able to use “**genePanelFilter**: {geneSymbols: ['FGFR1','FGFR2’]},” argument and the output limits...

False positive deletion SNV/indel vcf

Thanks Véronique. The next release was indeed very soon! i just got an email! 👌🏽

How to construct queries

Hi Developers, I am trying to use Medikanren for generating hypothesis for drug repurposing. I was able to install the tool but I am not able to construct meaningful queries...

SpliceAI in exomiser-14

@julesjacobsen Do you know if SpliceAI scores will be incorporated into Variant score in the next version of exomiser? Any estimated date for it? SpliceAI scores have proved to be...

Exomiser v14.0.0 is not recognizing unstructured key meta-information as a valid header line.

Thanks Jules.