GEMSTAR


GEMSTAR stands for GEnetic Medicine Standards, Tools And Resources and is the suite of standards, tools, and resources that the TGMI has developed.


Standards

GEMSTAR - QSM

QSM

A simple, comprehensive, transparent standard to evaluate and describe NGS quality.

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Read more about QSM on our blog


Tools

GEMSTAR - OpEx

OpEx

A validated, press-and-play pipeline for exome analysis and annotation.

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Read more about OpEx on our blog

GEMSTAR - DECoN

DECoN

A validated tool to identify exon CNVs in NGS data.

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Read more about DECoN on our blog

GEMSTAR - CoverView

CoverView

A fast, flexible, user-friendly quality evaluation tool for NGS data.

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Read more about CoverView on our blog

CAVA

CAVA

A fast, lightweight tool to facilitate clinical annotations, interpretations and comparisons with other datasets.

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ICR142 Benchmarker

ICR142 Benchmarker

An easy to use tool assessing variant caller performance using the ICR142 NGS validation series.

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Resources

GEMSTAR - ICR96

ICR96

A dataset to evaluate the sensitivity and specificity of exon CNV calling in NGS analyses.

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Read more about ICR96 on our blog

GEMSTAR - ICR142

ICR142

A dataset to evaluate the sensitivity and specificity of substitution and indel calling in exome analyses.

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GEMSTAR - ICR639

ICR639

A dataset to evaluate the analytical sensitivity of cancer predisposition gene testing.

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Read more about ICR639 on our blog

GEMSTAR - ICR1000

ICR1000

A dataset of exome sequences from 1000 people from the UK general population.

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Access dataset
Read more about ICR1000 on our blog