Somatic Mosaicism across Human Tissues (SMaHT)

Description

The Somatic Mosaicism across Human Tissues (SMaHT) project is an NIH Common Fund consortium (2023-) aimed to comprehensively characterize somatic variation ("mosaicism") in normal human tissues. While most genetic studies have relied on blood-derived DNA, SMaHT captures the full spectrum of DNA variation across cell types, tissues, and organs from phenotypically normal individuals to better understand the role of somatic mosaicism in human development, aging, and disease progression.Researchers in the consortium develop and apply experimental and computational methods, paired with the state-of-the-art sequencing technologies, to accurately detect even rare mutations (frequency < 1%) in subpopulations of cells. In addition to generating the production data across ~20 tissue types from 150 post-mortem donors, SMaHT also produces datasets from cell line and tissue homogenate samples, to benchmark and develop new technologies and computational tools for mosaic variant detection.The resulting data include high-coverage whole-genome and transcriptome data using both short-read and long-read sequencing technologies from multiple platforms (e.g., Illumina, PacBio, Oxford Nanopore Technologies, Ultima Genomics). SMaHT will also generate comprehensive genome-wide catalogs of somatic variants. We anticipate that this resource will be valuable not only for researchers studying somatic mosaicism, but also for the broader scientific community interested in large-scale WGS data from normal human tissues. More about the SMaHT project: program announcement, https://commonfund.nih.gov/smaht, and https://smaht.org/. More about the data portal: https://data.smaht.org/ and types of data generated: https://data.smaht.org/about/consortium/data

Update Frequency

Bi-annually

License

NIH Genomic Data Sharing Policy - https://gdc.cancer.gov/access-data/data-access-policies

Documentation

https://data.smaht.org/docs

Managed By

SMaHT Data Analysis Center (DAC)

See all datasets managed by SMaHT Data Analysis Center (DAC).

Contact

smhelp@hms-dbmi.atlassian.net

How to Cite

Somatic Mosaicism across Human Tissues (SMaHT) was accessed on DATE from https://registry.opendata.aws/smaht. The SMaHT datasets were generated as part of the NIH Common Fund consortium initiative, Somatic Mosaicism across Human Tissues (SMaHT). The SMaHT datasets are submitted under dbGaP studies (http://www.ncbi.nlm.nih.gov/gap), with the study accession numbers, phs004193 for the SMaHT Benchmarking data and phs004194 for the SMaHT Production data. The datasets were provided by the SMaHT Data Analysis Center (DAC) [1UM1DA058230] on behalf of the SMaHT network. More information about the SMaHT Network is available online at https://smaht.org/, about the SMaHT Data Portal at https://data.smaht.org/ , and types of data generated by the Network at https://data.smaht.org/about/consortium/data

Usage Examples

Tools & Applications

• Somatic Mosaicism across Human Tissues Data Portal by SMaHT Data Analysis Center (DAC)
  

Publications

• The Somatic Mosaicism across Human Tissues Network by Coorens T, Oh J, Choi Y, Lim N, Zhao B, Voshall A et al.