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ASSISTANT PROFESSOR | Institute for Genomic Health
ASSISTANT PROFESSOR | Genetics and Genomic Sciences
Biography
Dr. Vikas Pejaver is an Assistant Professor at the Institute for Genomic Health and the Department of Genetics and Genomic Sciences in the Icahn School of Medicine at Mount Sinai. His research focuses on the development and application of machine learning methods to relate genetic variation to molecular function and disease phenotypes, with a particular emphasis on rare variants and diseases. His work utilizes a broad array of machine learning techniques on genomic, protein and electronic health record data sets. He is an active collaborator within the Clinical Genome (ClinGen) and Impact of Genomic Variation on Function (IGVF) Consortia, having served as a co-chair of two focus groups within the Impact of Genomic Variation on Function (IGVF) Consortium related to ontologies, knowledge graphs and language models. He also collaborates with the Clinical Genome (ClinGen) Consortium on their.
Dr. Pejaver has a Bachelor’s degree in Biotechnology from the People’s Education Society (PES) Institute of Technology (now PES University) in Bengaluru, India. After that, he received his Master’s degree in Bioinformatics and doctoral degree in Informatics from the School of Informatics and Computing (now School of Informatics, Computing and Engineering) at Indiana University, Bloomington. Dr. Pejaver then completed his postdoctoral training at the Department of Biomedical Informatics and Medical Education (BIME) and the eScience Institute at the University of Washington (UW), where he received the Moore/Sloan and Washington Research Foundation Innovation in Data Science Postdoctoral Fellowship. He also received a K99/R00 Pathway to Independence Award from the National Library of Medicine at the National Institutes of Health. He has received numerous awards for research and mentorship including the Fred Wolf Mentorship Award at UW BIME and the Outstanding Team Presentation Award in the Interstellar Initiative for Young Stars of Science.
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Collaborations and top research areas from the last five years
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CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)
Aspromonte, M. C., Del Conte, A., Zhu, S., Tan, W., Shen, Y., Zhang, Y., Li, Q., Wang, M. H., Babbi, G., Bovo, S., Martelli, P. L., Casadio, R., Althagafi, A., Toonsi, S., Kulmanov, M., Hoehndorf, R., Katsonis, P., Williams, A., Lichtarge, O. & Xian, S. & 9 others, , 2025, (Accepted/In press) In: Human Genetics.Research output: Contribution to journal › Article › peer-review
Open Access -
Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers
Chen, Y., Lee, K., Woo, J., Kim, D. W., Keum, C., Babbi, G., Casadio, R., Martelli, P. L., Savojardo, C., Manfredi, M., Shen, Y., Sun, Y., Katsonis, P., Lichtarge, O., Pejaver, V., Seward, D. J., Kamandula, A., Bakolitsa, C., Brenner, S. E. & Radivojac, P. & 3 others, , 2025, (Accepted/In press) In: Human Genetics.Research output: Contribution to journal › Article › peer-review
Open Access -
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
ClinGen Sequence Variant Interpretation Working Group, Nov 2024, In: Genetics in Medicine. 26, 11, 101213.Research output: Contribution to journal › Article › peer-review
Open Access -
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
The Critical Assessment of Genome Interpretation Consortium, Dec 2024, In: Genome Biology. 25, 1, 53.Research output: Contribution to journal › Article › peer-review
Open Access -
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
Stenton, S. L., O’Leary, M. C., Lemire, G., VanNoy, G. E., DiTroia, S., Ganesh, V. S., Groopman, E., O’Heir, E., Mangilog, B., Osei-Owusu, I., Pais, L. S., Serrano, J., Singer-Berk, M., Weisburd, B., Wilson, M. W., Austin-Tse, C., Abdelhakim, M., Althagafi, A., Babbi, G. & Bellazzi, R. & 54 others, , Dec 2024, In: Human Genomics. 18, 1, 44.Research output: Contribution to journal › Article › peer-review
Open Access
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Benchmarking computational variant effect predictors by their ability to infer human traits
1/07/24
1 item of Media coverage
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Research presented by Invitae at the American Society of Human Genetics Meeting Pushes Science and Practice of Genetics Forward
17/10/19
1 item of Media coverage
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Research presented by Invitae at the American Society of Human Genetics Meeting Pushes Science and Practice of Genetics Forward
17/10/19
1 item of Media coverage
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Research presented by Invitae at the American Society of Human Genetics Meeting Pushes Science and Practice of Genetics Forward
17/10/19
6 items of Media coverage
Press/Media