Scalable genomic analysis to learn the biological mechanisms of complex diseases.

The Neale lab focuses on uncovering the genetic risk factors of common disease, in particular through international collaboration to diversify the global representation of study participants, as well as the research community involved in such efforts. We develop statistical methods and computational tools to enable efficient and scalable analysis of the growing datasets available in genetic sequencing studies. While the approaches we develop are broadly applicable to any disease or trait, we have a strong commitment to making progress on psychiatric and neurodevelopmental disorders such as schizophrenia, bipolar disorder, autism and ADHD.

1. Schizophrenia Exome Sequencing Meta-Analysis (SCHEMA) – a global collaborative to generate, aggregate and harmonize sequence data to advance gene discovery for schizophrenia.
2. Bipolar Exome (BipEx) collaboration — leveraged exome sequencing in over 14,000 cases to identify AKAP11 as definitive risk gene for bipolar disorder and schizophrenia.
3. Populations Underrepresented in Mental Illness Association Studies (PUMAS) – an international collaboration to discover the genetic risk factors of severe mental illness in Africa and admixed populations of the Americas.
4. Hail – a cloud-native toolkit for scalable genetic analysis (hail.is)