Ashish Kumar

Ashish Kumar

Affiliated to Research
Visiting address: KI/Institutionen för klinisk forskning och utbildning, SÖS, 11883 Stockholm
Postal address: S1 Klinisk forskning och utbildning, Södersjukhuset, S1 KI SÖS Forskning Pediatrik Melén, 118 83 Stockholm

About me



  • Research Summary:
    * OMICs data integration involving GWAS and imputed datasets, sequencing (genomic and exomes), methylation/epigenomics data,  

  • transcriptomics, expression arrays, proteomics and biological pathways.
    * Application of methodologies in artificial intelligence/machine learning 
  • into genomics.
    * Complex diseases like asthma, type-2 diabetes, pulmonary function traits like lung function, COPD, eczema, rhinitis, obesity, BMI and related
    * GWAS analysis in consortium projects like DIAGRAM , ENGAGE , EGG, EAGLE, SpiroMeta, MAGIC, GoDMC, etc.
    * EWAS analysis in consortium projects with PACE and MeDALL
    * Discovery, genotyping and association evaluation of variants in projects like GoT2D [14], GABRIEL and SUMMIT project (developing SOPs and pipelines for discovery/analysis on HPC servers and super-computing clusters).
    * Evaluations of methylation chip data using various normalisation methods 

  • * Annotation challenges with genetics and epigenetics datasets.

    * Covering diverse range of platforms including low-coverage sequencing, exome-sequencing, dense-array genotyping on various chips from Illumina &

  • Affy, methylation arrays from Illumina, custom i-Select chips like Metabochip, HumanCoreExome, etc.
    * Multivariate statistics like logistic regression, principal components analysis, etc. to analyse various cohort datasets.
    * Gene and environment interactions, rare variants and fine mapping analysis.
    * Building and incorporating large QC and bioinformatics-pipelines for various types of -omics datasets like genotyped/imputed SNPs, methylation
    CpGs, RNA-seq, proteomics, expression, etc.
    * Managing Data centre
  • high-performance computing resources.
    * Large scale data storage, handling, formatting and visualisation.
    * Bioinformatics education &
  • training.


  • For detailed publications list, please follow this link:

  • hl=en


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