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Vikas Pejaver

PhD

20102026

Research activity per year

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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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  • 49 Article
  • 2 Conference contribution
  • 2 Review article

  • Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features

    Tinker, R. J., Jacob, N., Syed, M. G., Kelkar, J., Donnelly, C., Elsharkawi, I., Ganesh, J., Gelb, B. D., Pejaver, V., Kozicz, T. & Morava, E., Jan 2026, In: JIMD Reports. 67, 1, e70068.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    1 Scopus citations

  • The IGVF catalog—from genetic variation to function

    Li, D., Liu, S., Assis, P. R., Li, M., Dong, S., Whaling, I., Jolanki, O., Kagda, M., Zhang, W., Macias-Velasco, J. F., Liu, T., Cody, S., Antonacci-Fulton, L., Huang, Y., Liu, J., Montgomery, M. T., Zeiberg, D., Jain, S., Pejaver, V. & Bergquist, T. & 27 others, Chen, Y., Radivojac, P., Gersbach, C. A., Sherpa, R. N., Castro, C. P., Boyle, A. P., Starita, L. M., Fowler, D. M., Ahituv, N., Dey, K. K., Majoros, W. H., Reddy, T. E., Craven, M., Sinha, R., Sverchkov, Y., Cai, X., Nzima, M. Z., Calderwood, M. A., Rozowsky, J., Gerstein, M., Ma, J., Yue, F., Cherry, M. M., Love, M. I., Engreitz, J. M., Hitz, B. C. & Wang, T., 6 Jan 2026, In: Nucleic Acids Research. 54, 1, p. D1437-D1445

    Research output: Contribution to journal › Article › peer-review

    Open Access
    1 Scopus citations

  • 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, Surento, W., Pejaver, V., Mooney, S. D., Sunderam, U., Srinivasan, R., Murgia, A., Piovesan, D., Tosatto, S. C. E. & Leonardi, E., Mar 2025, In: Human Genetics. 144, 2, p. 227-242 16 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    2 Scopus citations

  • Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria

    ClinGen Sequence Variant Interpretation Working Group, Jun 2025, In: Genetics in Medicine. 27, 6, 101402.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    28 Scopus citations

  • Critical assessment of missense variant effect predictors on disease-relevant variant data

    Rastogi, R., Chung, R., Li, S., Li, C., Lee, K., Woo, J., Kim, D. W., Keum, C., Babbi, G., Martelli, P. L., Savojardo, C., Casadio, R., Chennen, K., Weber, T., Poch, O., Ancien, F., Cia, G., Pucci, F., Raimondi, D. & Vranken, W. & 16 others, Rooman, M., Marquet, C., Olenyi, T., Rost, B., Andreoletti, G., Kamandula, A., Peng, Y., Bakolitsa, C., Mort, M., Cooper, D. N., Bergquist, T., Pejaver, V., Liu, X., Radivojac, P., Brenner, S. E. & Ioannidis, N. M., Mar 2025, In: Human Genetics. 144, 2, p. 281-293 13 p., 101213.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    12 Scopus citations
View all 53 Research outputs