We participate in several large-scale projects that provide us with funding and research questions.

Projects collection

AMP-T2D-GENES

A collaboration that began among investigators funded by the NIDDK and continued in partnership with the Accelerating Medicines Partnership. It produced the largest exome sequencing dataset to date for T2D, which was the focus of our 2019 study and which we continue to analyze today. See slides from a seminar describing what AMP-T2D-GENES has taught us about rare coding variants and type 2 diabetes.

Children's Rare Disease Cohorts

A sequencing initiative at Boston Children’s Hospital for a variety of cohorts across many rare diseases. We are adapting the analytical and statistical methods we have developed for common disease association analysis to study these sequences for insights into rare diseases and their relationships to phenotypically similar common diseases. Learn more about the CRDC.

The Common Metabolic Diseases Knowledge Portal

Our flagship genomics knowledge portal, funded by the NIDDK and AMP-T2D. Our goal is to make genetic data and downstream analyses of it accessible to biologists of all backgrounds. Try out the CMDKP.

The Association to Function Knowledge Portal

Our disease agnostic genomics knowledge portal, a genomic community resource funded by the NHGRI. Our goal is to apply the approach we have pioneered for the CMDKP to all common diseases. Try out the A2FKP.

Knowledge Portal Network

A network of genomics knowledge portals across various disease areas, each built in partnership with the expertise of a disease community. Data within these portals feed into the A2FKP and help us balance data comprehensiveness and quality. Learn more about the Knowledge Portal Network.

Translator

An NCATS-funded consortium seeking to integrate various biomedical data types. We integrate the genetic data from our knowledge portals within the Translator Knowledge Graph, which is then mined by reasoning agents to answer translational queries. Try out Translator.

RADIANT

An NIDDK-funded consortium recruiting atypical diabetes patients for whole genome sequencing. We are studying these patients to learn about disease heterogeneity, potential precision medicine approaches for diabetes, and shared genetic etiologies of various forms of diabetes. Learn more about RADIANT.

Common Fund Data Ecosystem

An NIH ODSS-funded consortium seeking to connect data from various projects funded by the NIH Common Fund. We serve as the Common Fund Knowledge Center, where we make knowledge within and across these projects as easy to access as possible by researchers of various backgrounds. Learn more about the CFDE.