Hilary Martin, Ph.D.

Group Leader, Wellcome Trust Sanger Institute

SFARI Investigator Website

Hilary Martin has strong expertise in the analysis of genome- and exome-sequence data from people with rare diseases, and in the investigation of both rare and common variant contributions to disease. She is experienced in rare variant burden analysis for quantifying genetic architecture of rare diseases and statistical methods for robust gene discovery in this context.

Martin brings exome-sequence data from 16,000 deeply-phenotyped healthy individuals from two birth cohorts (Born in Bradford and the Avon Longitudinal Study of Parents and Children), to allow investigation of the role of autism-associated variants in cognition and behavior of the general population. Furthermore, she brings intimate knowledge of the phenotype and exome-sequence data from 13,000 families in the Deciphering Developmental Disorders project.

Martin is a co-investigator on the Spectrum 10K project together with Simon Baren-Cohen, Varun Warrier, Matthew Hurles, Daniel Rowitch and Daniel Geschwind. Furthermore, Martin and Hurles collaborate closely on the Deciphering Developmental Disorders project and the aforementioned birth cohorts. She routinely submits papers to preprint servers, ensures her published papers are open-access, and releases datasets on archives such as the European Genome-phenome archive (EGA).

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