AP
Ankit K. Pathak
University of Edinburgh, Institute of Genomics and Integrative Biology, University of Delhi
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genetic Associations and Epidemiology · Genomics and Rare Diseases · Evolution and Genetic Dynamics
0009-0007-3314-371X
Employment
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University of Edinburgh Postdoctoral Researcher2026 - Present
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Institute of Genomics and Integrative Biology Research Assistant2019 - 2021
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University of Delhi Junior Design Fellow2018 - 2019
Education
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University of Edinburgh Genetics and Molecular Medicine PhD2022 - 2026
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University of Delhi Bachelor of Technology (Information Technology and Mathematical Innovations)2013 - 2017
Projects & Funding
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Protein Structure, Molecular Mechanisms and Human Genetic Disease: Beyond the Loss-of-function Paradigm European Research Council2021 - 2026
Publications (9)
- Mechanism-selective deep mutational scanning distinguishes ERCC2 disease phenotypes Save
- Combining MAVEs and computational predictors improves variant classification across ancestries in hereditary cancer genes Save
- Human Mendelian disease and in vivo mutagenesis screening define the molecular architecture of the U8 snoRNA Save
- Pervasive ancestry bias in variant effect predictors Save
- Whole Exome Sequencing in Healthy Individuals of Extreme Constitution Types Reveals Differential Disease Risk: A Novel Approach towards Predictive Medicine Save
- Spatio-temporal dynamics of intra-host variability in SARS-CoV-2 genomes Save
- A rigorous framework for detecting SARS-CoV-2 spike protein mutational ensemble from genomic and structural features Save
- Human PRE-PIK3C2B exhibits long-range intra- and inter-chromosomal interactions with genomic regions enriched in repressive marks Save
- Meta-analysis of genomic variants and gene expression data in schizophrenia suggests the potential need for adjunctive therapeutic interventions for neuropsychiatric disorders Save