Home » Monthly News Archive » September 2010

September 2010

NGRL hosts next-gen workshop at BSHG 2010

NGRL Manchester hosted a workshop entitled ‘Next Generation Sequencing and Clinical Genetics: A Beginner’s Guide’, which took place at the BSHG’s British Human Genetics Conference at the University of Warwick in September. The workshop was well attended by conference delegates who enjoyed presentations from an expert line-up including John Burn (Newcastle), Howard Martin (Cambridge) and Chris Mattocks (Wessex).

an image linked to this news item

NGRL Manchester Marks 10,000th Referral for Diagnostic Mutation Database
NGRL Manchester marked the addition of the 10,000th referral to its Diagnostic Mutation Database (DMuDB) by presenting an award to Wessex Regional Genetics Laboratory (the laboratory that submitted the 10,000th referral) at the British Human Genetics Conference on the 6th September. The database provides an essential resource for the UK’s genetic testing laboratories, allowing them to share genetic test results to support diagnosis. The 10,000th referral took DMuDB to over 34,000 individual variants (mutations) in 43 genes.
Photo of DMuDB award presentation

SNPCheck v2.1 launched with SNP filter capability
NGRL Manchester has expanded the functionality of its popular primer checking tool with the launch of SNPCheck v2.1. This version introduces a number of new features including the ability to filter variants from results. The changes have been made in order to address the problem of ‘SNP overload’ created by the rapid expansion of dbSNP over the last year.
 
an image linked to this news item