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oege - online encyclopedia for genetic epidemiology studies overview gwas ngs population studies case & family studies genetic databases genotyping phenotyping software disease genes genetic diversity journals 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 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 click for older news... 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 . © 2006-11, www.oege.org

URL analysis for oege.org

http://www.oege.org/genotyping.html
http://www.oege.org/journals.html
http://www.oege.org/ngs.html
http://www.oege.org/gwas.html
http://www.oege.org/software/
http://www.oege.org/oldnews.html
http://www.oege.org/geneticdatabases.html
http://www.oege.org/diseasegenes.html
http://www.oege.org/popstudies.html
http://www.oege.org/geneticdiversity.html
http://www.oege.org/caseandfamstudies.html
http://www.oege.org/phenotyping.html

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WHOIS LIMIT EXCEEDED - SEE WWW.PIR.ORG/WHOIS FOR DETAILS

  REFERRER http://www.pir.org/

  REGISTRAR Public Interest Registry

SERVERS

  SERVER org.whois-servers.net

  ARGS oege.org

  PORT 43

  TYPE domain

  REGISTERED unknown

DOMAIN

  NAME oege.org

NSERVER

  NS2.STREAMLINEDNS.CO.UK 213.171.212.13

  NS1.STREAMLINEDNS.CO.UK 213.171.208.13

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