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22nd March 2019: “Clinical bioinformatics and genomic applications for resolving human diseases”

Fri, 22 Mar 19 @ 11:00 AM -- 12:00 PM

Department of Computational and Data Sciences 

Department seminar

SPEAKER  : Dr. Abhishek Kumar

Affiliation   : Biology Section, University of Kiel, Christian-Albrechts-Universität zu Kiel,  

                      Kiel, Germany
TITLE         : Clinical bioinformatics and genomic applications for resolving human diseases
Date/Time   :  March 22, 2019 (Friday) 11:00 AM
Venue          : 102 CDS Seminar Hall.


Post human genome sequencing, there are gigantic technological advancements in next-generation DNA sequencing methods, which have opened up wide array of opportunities for unravelling and characterization of various questions of biology and medicine in a cost-effective manner. Herein, I summarize my experiences of comparative and translational genomic applications in human diseases. Human diseases are major cause of human death and mortality. Genetics is a major driver of human diseases. Understanding of pathogenetic markers are hallmark of post-genomic era for deducing genetic causes of a particular disease. I have developed a pipeline for computational characterization and identification of mutational hotspot within genes involved in human diseases.  Cancer predisposing genes can be detected using germline oncogenomic analyses. Advancements in the next-generation sequencing technologies boost up this approach of germline genomics to genetic counselling approach. I employed these methods in our studies of familial cancer to unravel rare clinically important variants, based on the pedigrees. pedigree-based studies have a high discriminatory power if samples from many affected and unaffected members in each family are available. I will describe an upgraded version of the familial cancer variant prioritization pipeline, FCVPPv2, which is a pipeline capable of detecting rare germline variants and their corresponding cancer predisposing genes. FCVPPv2 prioritizesdeleterious and regulatory germline variants, both in the coding and non-coding region for cancer families. The advantages of this approach are several-fold Overall, I will present an overview of FCVPPv2, some of the resulting data, challenges and future prospects of personalized genomics for resolving human diseases.


Abhishek Kumar is research scientist with PhD in Bioinformatics from University of Bielefeld, Bielefeld. His research interests are next-generation DNA sequencing, Genomic data analyses, RNA-Seq and Proteomics focusing disease genomics, drug discovery genomics, comparative genomics and molecular evolution.

Host Faculty: Prof. Debnath Pal


Fri, 22 Mar 19
11:00 AM -- 12:00 PM


Room No: 102 (Seminar Hall of CDS)