NDRI contributes to groundbreaking work to benchmark tools for detection of somatic mutations in human tissues. 

The National Disease Research Interchange (NDRI) is proud to share that members of its Somatic Mosaicism Across Human Tissues (SMaHT) project team have published a benchmarking paper on the project in Cell magazine.   SMaHT is a National Institutes of Health (NIH) initiative that will provide the first comprehensive public resource for analyzing genetic variation due to somatic mosaicism in human tissues from all developmental layers in the human body. The paper, “Comprehensive Benchmarking of Somatic Mutation detection by the SMaHT Network,” demonstrates that the network’s advances in sequencing and analysis now enable systematic and comprehensive discovery of somatic mutations across diverse mutation types in non-cancerous tissues and across the genome.   It was written by members of the SMaHT Consortium, including NDRI Chief Scientific Officer Thomas Bell, PhD; NDRI Director of NIH Initiatives Patrick Van Hoose, PhD;  NDRI Senior Vice President of Operations Melissa VonDran, PhD; and Kathryn Leonard, PhD, SMaHT Program Manager.    “We know that somatic mosaicism is a fundamental feature of human biology, yet detecting those mutations is so challenging,” said Dr. Bell. “The goal of SMaHT is to provide the scientific and clinical communities with a roadmap for accurate genome-wide somatic mutation analysis.”  NDRI, in collaboration with the University of Maryland School of Medicine and Johns Hopkins All Children’s Hospital, was awarded a research grant by the NIH to serve as the Tissue Procurement Center (TPC) for the SMaHT Network. NDRI works with Organ Procurement Organizations ConnectLife, Gift of Life Donor Program, and LifeGift  to collect, store, and distribute multiple healthy tissues across body systems from a diverse pool of at least 150 organ and tissue donors. In addition to the TPC partners, the SMaHT Network includes:   Organizational Center (OC) for SMaHT: 

• Washington University 

 Data Analysis Center (DAC): 

• Harvard University 

Genome Characterization Centers (GCC): 

• Broad Institute 

• University of Washington and Seattle Children’s Research Institute 

• New York Genome Center 

• Baylor College of Medicine 

• Washington University 

Tool and Technology Development (TTD) Centers: 

• Mayo Clinic Rochester 

• Dana-Farber Cancer Institute 

• Broad Institute 

• Boston Children’s Hospital 

• New York University School of Medicine 

• University of Massachusetts Medical School Worcester 

• Case Western Reserve University 

• Weill Medical College of Cornell University 

• University of Utah 

• University of Michigan Ann Arbor 

• Baylor College of Medicine 

• Stanford University 

SMaHT Funding Partners: 

• Office of the Director (OD), Office of Strategic Coordination 

Read the full article here.