Ivan Iossifov

Ivan Iossifov

Associate Professor

Ph.D., Columbia University, 2008

iossifov@cshl.edu | 516-367-6947

Faculty Profile

Every gene has a job to do, but genes rarely act alone. Biologists have built models of molecular interaction networks that represent the complex relationships between thousands of different genes. I am using computational approaches to help define these relationships, work that is helping us to understand the causes of common diseases including autism, bipolar disorder, and cancer.

Ivan Iossifov focuses on the development of new methods and tools for genomic sequence analysis and for building and using molecular networks, and he applies them to specific biomedical problems. He studies the genetics of common diseases in humans using two main tools: next-generation sequencing and molecular networks representing functional relationships among genetic loci. These approaches in combination enable the kind of large-scale studies necessary for furthering our understanding of the complex etiology of disorders such as autism, bipolar disorder, and cancer.

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All Publications

Rates of contributory de novo mutation in high and low-risk autism families.

1 Sep 2021 | Communications Biology | 4(1):1026
Yoon, Seungtai, Munoz, Adriana, Yamrom, Boris, Lee, Yoon-Ha, Andrews, Peter, Marks, Steven, Wang, Zihua, Reeves, Catherine, Winterkorn, Lara, Krieger, Abba, Buja, Andreas, Pradhan, Kith, Ronemus, Michael, Baldwin, Kristin, Levy, Dan, Wigler, Michael, Iossifov, Ivan

Mapping and characterization of structural variation in 17,795 human genomes.

Jul 2020 | Nature | 583(7814):83-89
Abel, Haley, Larson, David, Regier, Allison, Chiang, Colby, Das, Indraniel, Kanchi, Krishna, Layer, Ryan, Neale, Benjamin, Salerno, William, Reeves, Catherine, Buyske, Steven, NHGRI Centers for Common Disease Genomics, Matise, Tara, Muzny, Donna, Zody, Michael, Lander, Eric, Dutcher, Susan, Stitziel, Nathan, Hall, Ira

N-terminal Variant Asp14Asn of the Human p70 S6 Kinase 1 Enhances Translational Signaling Causing Different Effects in Developing and Mature Neuronal Cells

5 Mar 2020 | Neurobiology of Learning and Memory | 171(107203)
Venkatasubramani, J, Subramanyam, P, Pal, R, Reddy, B, Srinivasan, D, Chattarji, S, Iossifov, I, Klann, E, Bhattacharya, S

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

24 Jan 2019 | European Journal of Human Genetics | 27(5):738-746
Jansen, S, van der Werf, I, Innes, A, Afenjar, A, Agrawal, P, Anderson, I, Atwal, P, van Binsbergen, E, van den Boogaard, M, Castiglia, L, Coban-Akdemir, Z, van Dijck, A, Doummar, D, van Eerde, A, van Essen, A, van Gassen, K, Guillen Sacoto, M, van Haelst, M, Iossifov, I, Jackson, J, Judd, E, Kaiwar, C, Keren, B, Klee, E, Klein Wassink-Ruiter, J, Meuwissen, M, Monaghan, K, de Munnik, S, Nava, C, Ockeloen, C, Pettinato, R, Racher, H, Rinne, T, Romano, C, Sanders, V, Schnur, R, Smeets, E, Stegmann, A, Stray-Pedersen, A, Sweetser, D, Terhal, P, Tveten, K, VanNoy, G, de Vries, P, Waxler, J, Willing, M, Pfundt, R, Veltman, J, Kooy, R, Vissers, Lelm, de Vries, B

Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk

20 Aug 2018 | Nature Genetics | 50(9):1327-1334
Castel, S, Cervera, A, Mohammadi, P, Aguet, F, Reverter, F, Wolman, A, Guigo, R, Iossifov, I, Vasileva, A, Lappalainen, T

Damaging de novo mutations diminish motor skills in children on the autism spectrum

20 Feb 2018 | Proceedings of the National Academy of Sciences of USA | 115(8):E1859-E1866
Buja, A, Volfovsky, N, Krieger, A, Lord, C, Lash, A, Wigler, M, Iossifov, I

Measuring shared variants in cohorts of discordant siblings with applications to autism

3 Jul 2017 | Proceedings of the National Academy of Sciences of USA | 114(27):7073-7076
Ye, K, Iossifov, I, Levy, D, Yamrom, B, Buja, A, Krieger, A, Wigler, M

De novo indels within introns contribute to ASD incidence

24 May 2017 | bioRxiv | :137471
Munoz, Adriana, Yamrom, Boris, Lee, Yoon-ha, Andrews, Peter, Marks, Steven, Lin, Kuan-Ting, Wang, Zihua, Krainer, Adrian, Darnell, Robert, Wigler, Michael, Iossifov, Ivan

Indel variant analysis of short-read sequencing data with Scalpel

Dec 2016 | Nature Protocols | 11(12):2529-2548
Fang, H, Bergmann, E, Arora, K, Vacic, V, Zody, M, Iossifov, I, O'Rawe, J, Wu, Y, Jimenez Barron, L, Rosenbaum, J, Ronemus, M, Lee, Y, Wang, Z, Dikoglu, E, Jobanputra, V, Lyon, G, Wigler, M, Schatz, M, Narzisi, G

MUMdex: MUM-based structural variation detection

30 Sep 2016 | bioRxiv | :078261
Andrews, Peter, Iossifov, Ivan, Kendall, Jude, Marks, Steven, Muthuswamy, Lakshmi, Wang, Zihua, Levy, Dan, Wigler, Michael

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