News & Events

NGRL has published a summary report outlining the results of a comparative analysis of in silico tools for the evaluation of missense DNA changes.

Missense tool report front cover


NGRL is organising a workshop as part of the EuroGentest project (http://www.eurogentest.org). This workshop will look at the collection of clinical-quality data into databases, including the need for phenotype data collection. Its aim is to bring together experts to develop guidelines for:

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NGRL has launched a new tool to help clinical genetic scientists find variants in the latest 1000 Genomes Project dataset quickly and easily.

1000 Genomes Project logo

SNPCheck 3, NGRL’s popular primer-checking tool, now includes an option for users to check primers or probes against the current 1000 Genomes Project dataset in addition to the dbSNP database.

SNPCheck 3
This two-day training course is aimed at clinical geneticists who want to gain or update their awareness and practical experience of the bioinformatics resources used in medical genetics. 
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Our two-and-a-half day course reflects the new direction of diagnostic genetics in light of recent innovations and Modernising Science Careers. The programme provides essential training in aspects of bioinformatics for both cytogeneticists and molecular geneticists that reflect the trend towards combined laboratory services and a flexible, multi-skilled workforce.
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