Meghna Ahuja Bhasin

Research Interest

I am a PhD student at the Institute of Genomics Statistics and Bioinformatics under the supervision of Prof. Peter Krawitz. I am interested in developing software for bioinformatics and particularly improving rare disease diagnostics. I am currently working on the integration of variant prioritization algorithms into the variant analysis software.

 Scientific Vitae  

  • 2018-2021                  Senior Sotfware Engineer, Giesecke & Devrient, India
  • 2015-2017                  Assistant Manager, Suzon Energy Limited, India
  • 2011-2013                  Masters of Science in Bioinformatics, Sikkim Manipal University, India
  • 2010-2014                  Module Lead, Persistent Systems Limited, India

Publications

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

A Schmidt, M Danyel, K Grundmann, T Brunet, H Klinkhammer, TC Hsieh, ...

Nature Genetics 57 (7), 1790-1791

Leveraging next-generation phenotyping for ACMG classification from VUS to likely pathogenic in Mowat-Wilson syndrome

TC Hsieh, D Todd, T Warner, K Blankenship, D Saade, H Weiland, ...

medRxiv, 2025.02. 12.25321927

Enhancing variant prioritisation pipeline-Integrating PEDIA with VarFish via plugin-driven approach

MA Bhasin, P Incardona, A Knaus, A Schmid, P Krawitz, TC Hsieh, ...

EUROPEAN JOURNAL OF HUMAN GENETICS 32, 1658-1658

Dual molecular diagnoses of Cutis Laxa and Noonan Syndrome in Rwandan Individuals: A differential analysis of the facial dysmorphism with GestaltMatcher

A Knaus, TC Hsieh, MA Bhasin, N Dukuze, O Hakizimana, S Moosa, ...

EUROPEAN JOURNAL OF HUMAN GENETICS 32, 1616-1617

Next‐generation phenotyping in Nigerian children with Cornelia de Lange syndrome

A Arlt, A Knaus, TC Hsieh, H Klinkhammer, MA Bhasin, A Hustinx, ...

American Journal of Medical Genetics Part A 194 (9), e63641

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

A Schmidt, M Danyel, K Grundmann, T Brunet, H Klinkhammer, TC Hsieh, ...

Nature genetics 56 (8), 1644-1653

Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis

MA Bhasin, A Knaus, P Incardona, A Schmid, M Holtgrewe, M Elbracht, ...

Genes 15 (3), 370

Enhancing applicability of PEDIA by integration of CADA and GestaltMatcher into the variant analysis framework VarFish

MA Bhasin, TC Hsieh, A Knaus, P Krawitz, P Incardona, A Schmid

EUROPEAN JOURNAL OF HUMAN GENETICS 32, 296-297

Increasing the usability of PEDIA approach by integrating open-source GestaltMatcher and CADA into variant prioritization pipeline

JM Li, M Bhasin, A Knaus, P Krawitz, TC Hsieh

EUROPEAN JOURNAL OF HUMAN GENETICS 31, 620-620