TGMI


GEMSTAR is a suite of standards, tools and resources that TGMI has developed to evaluate, optimise and benchmark genetic testing. We hope GEMSTAR will help to make genetic testing and genetic medicine safer and more effective.

GEMSTAR – making genetic testing safer



INterview with BRCA2
Today the BRCA2 gene tells us a bit about herself, in our new interviews with genes series

An interview with BRCA2




James Ware
In this interview, James Ware shares why he's excited about the increasing amounts of available genetic data, and the strengths of the TGMI as a collaboration between different fields.

The TGMI team – James Ware


The Gene Curation Coalition (GenCC) brings seven initiatives together to tackle key needs in the curation of links between genes and disease.

The Gene Curation Coalition




Dominic McMullan
In this interview, TGMI team member Dominic McMullan shares his vision of connecting all diagnostic grade genetics data in a global resource.

The TGMI Team – Dominic McMullan


TGMI team member David FitzPatrick talks about the importance of robust evidence for gene-disease associations, and the need for systematic phenotype descriptions.

The TGMI Team – David FitzPatrick



Grace Tiao talks about her work at the Broad Institute, as part of the methods development team for gnomAD, and shares her thoughts on genetic medicine.

The TGMI Team – Grace Tiao



#TGMIFriday in 2017
Looking back on the past year of #TGMIFriday, the most popular posts all talk about some of the basic issues that the TGMI is trying to address

A year in #TGMIFriday posts



Matthew Hurles
TGMI team member Matthew Hurles talks about his involvement in the DDD, DECIPHER and TGMI, and the problems that still need to be solved in genetic medicine.

The TGMI Team – Matthew Hurles


Fiona Cunningham talks about tools for annotating variation data, and the importance of having good foundational resources for use in genetic medicine.

The TGMI Team – Fiona Cunningham


VUS - very unhelpful statement
The mismanagement of Variants of Uncertain Significance (VUS) is a big problem in genetic medicine. Causing harms and lawsuits. Why does it occur?

VUS – Very Unhelpful Statement



Shawn Yost talks about his role on the TGMI team, and the importance of standardising transcripts and annotations.

The TGMI Team – Shawn Yost



Marton Munz
In this interview, Márton Münz talks about the importance of data science for genetic medicine, and shares how a big life event brought him from physics to genetics.

The TGMI Team – Márton Münz



TGMIFriday summer favourites
Catch up with some #TGMIFriday popular blog posts discussing the challenges and opportunities in genetic medicine today.

#TGMIFriday favourites


Standardisation of processes and education of end users are key to making genetic medicine work, as TGMI team member Shazia Mahamdallie explains in this interview.

The TGMI Team – Shazia Mahamdallie