NIH Reporter #4UM1DA058220-04

Mosaicism in Human Tissues, from Telomere to Telomere to RFA-22-013: "Somatic Mosaicism across Human Tissues Program: Genome Characterization Centers."

This award funds a project to comprehensively characterize somatic genetic variation across multiple human tissues using advanced genomic and epigenomic techniques, aiming to improve understanding of somatic mosaicism and its regulatory effects in normal human tissues.

Description

The project aims to characterize multiple types of human somatic variation across the entire human genome in a set of 10 tissues from 50 donors, producing a framework for understanding somatic variation in post-mortem, non-pathological human tissues. The project will use high-quality sequencing and chromatin profiling data to generate donor-specific reference genome assemblies and call somatic variants in their genomic context, improving identification of somatic variants in complex regions and assessing their gene regulatory impact.

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