Siepel Lab
Principal Investigator: Adam Charles Siepel
Institution: Cold Spring Harbor Laboratory (Cold Spring Harbor, NY)
Primary Subfield: Genetics/Genomics
Recruitment Status: Inquire for rotation/fellowship opportunities
Research Focus
Project Summary My research program aims to make sense of modern genomic data through the lens of molecular evolution. Drawing from ideas and techniques in statistics, artificial intelligence, and population genetics, we seek both to understand the evolutionary forces that have shaped present-day genome sequences, and to use evolutionary patterns to gain insight into the phenotypic importance of particular genomic sequences, with broad implications for human health. Our work focuses in particular on three major areas: (1) evolutionary reconstruction based on genome sequences; (2) inference of the fitness consequences of human mutations; and (3) the study of transcriptional regulation and its evolution in mammals. In the last funding period (2018–2022), we achieved major advances in each of these areas, including both methodological advances and applications of new methods to important and timely scientific questions. For example, we recently developed innovative new methods for the inference of ancestral recombination graphs (ARGs) from multi-population sequence data; for the detection of selective sweeps using ARGs and deep neural networks; for the identification of essential gene…
Active NIH Awards
- 5R35GM127070-09: Evolutionary Human Genomics: Demography, Natural Selection, and Transcriptional Regulation (2026)
- 5R01HG012944-03: A unified probabilistic model and software implementation for analysis of nascent RNA sequencing data (2026)
- 5R35GM127070-08: Evolutionary Human Genomics: Demography, Natural Selection, and Transcriptional Regulation (2025)
- 5R01HG012944-02: A unified probabilistic model and software implementation for analysis of nascent RNA sequencing data (2025)
- 5R35GM127070-07: Evolutionary Human Genomics: Demography, Natural Selection, and Transcriptional Regulation (2024)
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