Study

Genome-wide quantification of rare somatic mutations in normal human tissues using massively parallel sequencing

Study ID Alternative Stable ID Type
EGAS00001001838 Other

Study Description

We present Bottleneck Sequencing System (BotSeqS), a nextgeneration sequencing method that simultaneously quantifies rare somatic point mutations across the mitochondrial and nuclear genomes. BotSeqS combines molecular barcoding with a simple dilution step immediately prior to library amplification. We use BotSeqS to show age and tissue-dependent accumulations of rare mutations and demonstrate that somatic mutational burden in normal tissues can vary by several orders of magnitude, depending on biologic and environmental factors. We further show major differences between the mutational patterns of the mitochondrial and nuclear genomes in normal tissues. Lastly, the mutation spectra of normal tissues were different from each other, but similar to those of the cancers that arose in them. This technology can provide insights into the number and nature of genetic alterations in normal tissues and can be used to address a variety of fundamental questions about the genomes of diseased tissues.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001002263
This is the first dataset for the Botseq sequencing project
Illumina HiSeq 2000,Illumina HiSeq 2500 39

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