Overview
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 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
GWAS of adiponectin levels
19 Jul 2011
Chung et al performed a GWAS of adiponectin levels in 382 subjects with young-onset hypertension using Illumina's HumanHap550. SNP rs4783244 in CDH13 was associated with plamsa adiponectin levels in both discovery and replication. The SNP also associated with risk of MS, T2DM and ischemic stroke in the CardioVascular Disease risk FACtors Two-township Study.
Published in Diabetes
GWAS of Hepatitis B vaccine response in an Indonesian population
15 Jul 2011
Png et al performed a two-stage GWAS of antibody titre in 3614 Indonesian recipients of Hep B vaccine. They report three independent signals within the HLA region, potentially implicating HLA-DR, HLA-DP and a gene rich HLA Class III interval.
Published in Human Molecular Genetics
Next generation sequence analysis of autosomal dominant chronic mucocutaneous candidiasis (CMC)
7 Jul 2011
van de Veerdonk et al use NGS to identify mutations in 14 people from 5 families with CMC (autosomal dominant). 100 genes were targeted using an array-based capture approach followed by NGS. Heterozygous missense mutations were identified in the coiled-coil domain of STAT1, which are believed to lead to defective Th1 and Th17 responses, and a consequent increased susceptibility to fungal infection.
Published in New England Journal of Medicine
GWAS of postoperative nausea and vomiting
01 Jul 2011
Janicki et al report a genome-wide association study of postoperative nausea and vomiting using pooled DNA. 122 patients were pooled, as were 129 matched controls, and allele frequencies in the pools determined using microarray probe intensity. Individual level genotyping was performed on top hits, and of 19 loci one SNP (near CHRM3) replicated successfully.
Published in Anesthesiology
Forthcoming Conferences
16th Human Genome Meeting
11-14 March 2012
The 16th HGM meeting will be held in Sydney Australia, with the main topic: "Genetics and Genomics in Personalised Medicine". Further details are available at the
HGM2012 website.
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.
