AK
AJAY KUMAR
EMBL-EBI, University of Cambridge, Universität Antwerpen, University of Helsinki, Wipro (India)
0000-0002-0897-055X
Employment
-
EMBL-EBI Postdoctoral Fellow2020 - 2024
-
University of Cambridge Research Associate2018 - 2020
-
Wipro (India) Software Engineer2007 - 2009
-
Indian Institute of Sciences Summer research fellow2006 - 2007
Education
-
Universität Antwerpen PhD Bioinformatics2013 - 2018
-
University of Helsinki MSc Bioinformatics2009 - 2012
Projects & Funding
Projects & funding information is unavailable.
Publications (18)
- Sex difference contributes to phenotypic diversity in individuals with neurodevelopmental disorders Save
- Developing a cluster-based approach for deciphering complexity in individuals with neurodevelopmental differences Save
- varAmpliCNV: Analyzing variance of amplicons to detect CNVs in targeted NGS data Save
- Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood Save
- Delineation of a new fibrillino-2-pathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome. Save
- Multiple solvent elution, a method to counter the effects of coelution and ion suppression in LC-MS analysis in bottom up proteomics. Save
- Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene. Save
- pBRIT: gene prioritization by correlating functional and phenotypic annotations through integrative data fusion. Save
- Data Driven Approaches Towards Computational Genome Interpretation for Identification of Disease Causing Mutations Save
- ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm. Save