[Decipher-announce] DECIPHER December 2009 newsletter

Paul Bevan ab6 at sanger.ac.uk
Tue Dec 22 17:32:00 GMT 2009

Greetings from Cambridge where a blizzard has covered the city in a
blanket of snow and added excitement to our preparations for Christmas.

1) Genomic Disorders 2010
2) Over 4000 patient records in DECIPHER
3) Forthcoming changes - NCBI 37

1) Genomic Disorders 2010
Copy Number and Sequence Variation in Mendelian and Complex Traits. 
This conference will be held in the Wellcome Trust Conference Centre, 
Hinxton, UK from Wednesday March 24th-Friday March 26th and will present 
an exciting blend of genomic science and clinical medicine.  Our meeting 
aims to bring together scientists and clinicians interested in genomic 
variation and its phenotypic effects. The pace of change accelerated during 
2009 with the publication of the first studies using whole exome sequencing 
approaches to identify mutations causing genetic syndromes.

This year's meeting will discuss the latest findings relating to the
genomic basis of human variation, congenital disorders and acquired diseases
including complex traits.  Highlights of this year's programme include an
overview of whole genome approaches to the study of genetic diseases,
presentations on normal variation and mechanisms of genomic disorders,
transcriptional control, models of genomic disorders and opportunities
for therapy.  Registration is now open.  For further information and to
register please click on the following link

2) Over 4000 patient records in DECIPHER
We have reached an exciting milestone in DECIPHER this month with the 4000th 
patient entry into the database!  The database relies on your participation and 
we are very grateful to all of you who contribute to it.  Remember only consented
records are visible to the rest of the consortium and to the wider scientific
and medical community.  The power of the database will grow as more records
are consented and you and your department are key players in that process.

3) Forthcoming changes - NCBI 37
In the early part of 2010 we will be migrating DECIPHER to NCBI build 37. This is 
quite a major undertaking as it involves remapping all of the clone-based entries. 
Future upgrades should become easier as more and more of the data in DECIPHER is 
entered at sequence level

Wishing you a very Merry Christmas and a Happy New Year

Contact decipher at sanger.ac.uk

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