Identifying the hidden genetic basis of disease

Our mission is to uncover novel genetic causes of common and rare disease and translate these insights into improved health outcomes for all.

Our science

How we do it

Our research

We focus on structural variants and other complex genomic rearrangements that are often omitted from large-scale human genetic studies because they are challenging to detect, interpret, and associate with disease. Our work addresses these limitations by developing novel approaches to enable more comprehensive and inclusive genetic analyses.

Our methods

We develop innovative computational and statistical methods to advance the interpretation of structural variants using large-scale genomic datasets. By integrating variant data with clinical and molecular information, we build models to predict their functional consequences and improve variant classification and interpretation.

Our philosophy

We believe great science is built on rigor, integrity, and teamwork, and we are committed to conducting reproducible and transparent research. We aim to foster a collaborative training environment that equally prioritizes advancing fundamental biological understanding and translating those discoveries into meaningful clinical impact.

Our location

The Lowther lab is located in the new Hamilton and Amabel James Center for Artificial Intelligence and Human Health on the Icahn School of Medicine at Mount Sinai campus in Manhattan’s Upper East Side. The interdisciplinary center brings together leading experts in genomics, artificial intelligence, imaging, data science, and electronic health records research.

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Our commitment to training

Central to our scientific mission is a commitment to fostering an outstanding training environment dedicated to shaping the next generation of leaders in computational human genomics. Our goal is to help each lab member reach their full potential and prepare them for success across a wide variety of careers and industries. In addition to joining the Lowther lab, you will also belong to a vibrant and collaborative community of scientists affiliated with The Institute for Genomic Health and the Department of Genetics and Genomic Sciences at ISMMS.

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latest news

Chelsea Lowther with Saleh in front of his award-winning poster.

March 10-14, 2026

Congratulations to Saleh for being selected as one of the “Top ranked posters” at the 2026 American College of Medical Genetics meeting in Baltimore, MD! His work evaluating dosage sensitivity predictors for clinical CNV classification was very well received.

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October 14-18, 2025

A nostalgic return to Boston for the American Society of Human Genetics 2025 annual meeting! It was great to celebrate old colleagues and hear about the latest advances in human genetics.

Group photo of the 2025 GRC in Human Genetics and Genomics attendees in Portland, Maine

July 5-11, 2025

Chelsea attended the Gordon Research Conference in Human Genetics and Genomics in Portland, Maine where she spoke on the ‘Pathways to Success in Human Genetics and Genomics’ career panel at the Gordon Research Seminar.

June 8, 2025

Nani is officially accepted into the Advocacy Certificate for Human Genetics & Genomics Trainees (ACGT) Program through the American Society of Human Genetics. Congratulations, Nani! We’re so excited to see how you’ll contribute to the human genetics community through your dedication to science and advocacy.

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Meet the team

Get to know the people behind the science.

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Publications

Explore our contributions to human genetics and genomics.

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Contact Us

Interested in our research, potential collaborations, or training opportunities?