1000 genomes data in Broad Institutes IGV

Recent technological advances have stimulated a "new era" in human genetic epidemiology, with candidate gene association studies giving way to genome-wide association studies and mutation detection now possible at an exome or even genome scale. The large datasets resulting from this field has led to a substantial increase in the role of bioinformatics and statistical genetics, whilst the scale of the discoveries provides plentiful substrate for laboratory-based analyses.

The Online Encyclopedia for Genetic Epidemiology aims to provide a resource for researchers to locate information relevant to interpretation and follow-up of human genetic epidemiological discoveries, including: a range of population and case/family genetic epidemiological studies, relevant gene and sequence databases, genetic variation databases, trait measurement, resource labs, journals, software, general information, disease genes and genetic diversity. 

Recent News

GWAS of platelet count and volume in African Americans
01 Mar 2012
Qayyum et al report a GWAS for platelet count and volume. They identify five new loci, three of which replicate in European Americans. They also confirm 8 previously reported regions. Published in PLoS Genetics

GWAS of primary open angle glaucoma in Japanese
13 Mar 2012
Osman et al report a GWAS for primary open angle glaucoma in a Japanese population. They confirmed two loci reported in Caucasians and identified an additional possible locus (2q21). Published in Human Molecular Genetics

GWAS of melanoma
09 Oct 2011
The GenoMEL Consortium report a GWAS for melanoma (~3k cases, ~2k controls). Replicated loci included SNPs near ATM, MX2 and CASP8. Published in Nature Genetics

Exome sequencing in retinitis pigmentosa
12 Aug 2011
Ozgul et ak identify mutations in the male germ cell-associated kinase (MAK) gene that cause retinitis pigmentosa. This gene encodes a regulator of ciliary length. Published in AJHG

Exome sequencing in Charcot-Marie-Tooth disease
12 Aug 2011
Weedon et al report a DYNC1H1 mutation (His306Arg) causing dominant axonal Charcot-Marie-Tooth disease. Published in AJHG

Exome sequencing of Head and Neck Squamous Cell Carcinoma
28 Jul 2011
Agrawal et al use exome sequencing to search for mutations in 32 primary tumours. Tobacco use associated with increased number of mutations, while HPV-positive tumours had fewer mutations than HPV-negative. Mutations in FBXW7 and NOTCH were identified, with approx 40% of NOTCH1 mutations predicted to cause protein truncation. Published in Science

Identification of structural variation using NGS
25 Jul 2011
Zhang et al report on a method to identify genomic insertion/deletion and structural variants using a "split read" approach, which they claim allows mapping of exact breakpoints of SV events. Published in BMC Genomics

Forthcoming Conferences

European Society of Human Genetics 2012
23-26 Jun 2012
The 2012 ESHG meeting will be held in Nuremberg, Germany. Further details are available at the ESHG website.

American Society of Human Genetics 2012
6-10 Nov 2012
The 2012 ASHG meeting will be held in San Fransisco, USA. Further details are available at the ASHG2012 website.

Next Generation Sequencing Congress 2012
15-16 Nov 2012
The Next Generation Sequencing Congress will be held in London, UK. Further details are available at the Congress website.