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Assessment of Variant Abundance by Massively Parallel Sequencing for PTEN and TPMT

ABSTRACT: Assessment of Variant Abundance by Massively Parallel Sequencing for PTEN and TPMT

PROVIDER: PRJNA428380 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR6437780_1.fastq.gz	Fastqsanger.gz
	SRR6437780_2.fastq.gz	Fastqsanger.gz
	SRR6437790_1.fastq.gz	Fastqsanger.gz
	SRR6437790_2.fastq.gz	Fastqsanger.gz
	SRR6437800_1.fastq.gz	Fastqsanger.gz

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Assessment of Variant Abundance by Massively Parallel Sequencing for PTEN and TPMT

Project description:Determining the pathogenicity of human genetic variants is a critical challenge, and functional assessment is often the only option. Experimentally characterizing millions of possible missense variants in thousands of clinically important genes will likely require generalizable, scalable assays. Here we describe Variant Abundance by Massively Parallel Sequencing (VAMP-seq), which measures the effects of thousands of missense variants of a protein on intracellular abundance in a single experiment. We applied VAMP-seq to quantify the abundance of many thousands of single amino acid variants of two proteins, PTEN and TPMT, in which functional variants are clinically actionable.

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