Genes that control height

Largest yet survey of human genetic diversity

Letting the Genome out of the Bottle — Will We Get Our Wish?

davidd submitted, created time 11 months 3 weeks (content.nejm.org)

Genome analysis is being more affordable for us. As of November 2007, two companies have made available direct-to-consumer "personal genome services" (www.23andme.com) or "gene profiles" (www.decodeme.com) that rely on the same arrays of 500,000 to 1 million SNPs used in genomewide association studies. A third company (www.navigenics.com) has announced that it will offer similar services later this year.

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Genetic Code-Dependent: DNA Structure Also Crucial to Genomic Variation

Conjuring SNPs to detect associations

Reviver submitted, created time 1 year 5 months (www.nature.com)

"Human genome-wide association studies pose a challenge in identifying significant disease associations from nearly half a million statistical tests. A new report describes an especially promising approach, recently applied to the Wellcome Trust Case Control Consortium data sets, that uses the correlated structure of genomic variation to impute genotypes at missing sites and to test association with both observed and imputed SNPs.'

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International HapMap Project

lihaicheng2 submitted, created time 1 year 10 months (www.hapmap.org)

2007-02-11: Discrepancies found in phased haplotypes for non-par segment of ChrX

Substantial discrepancies between genotyping data and phased haplotypes were identified for the non-pseudoautosomal (non-par) region of chromosome X. These inconsistencies appear to largely involve hemizygous males of all population panels. Caution is advised when using phased data for the region between SNPs rs5939319 and rs55713 until further notice.

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A common coding variant in CASP8 is associated with breast cancer risk

nomad submitted, created time 1 year 10 months (www.nature.com)

The Breast Cancer Association Consortium (BCAC) has been established to conduct combined case-control analyses with augmented statistical power to try to confirm putative genetic associations with breast cancer. We genotyped nine SNPs for which there was some prior evidence of an association with breast cancer: CASP8 D302H (rs1045485), IGFBP3 -202 C A (rs2854744), SOD2 V16A (rs1799725), TGFB1 L10P (rs1982073), ATM S49C (rs1800054), ADH1B 3' UTR A G (rs1042026), CDKN1A S31R (rs1801270), ICAM5 V301I (rs1056538) and NUMA1 A794G (rs3750913)

Submit comment | Blog It | Email It | Keywords: CASP8 CASP8 breast cancer cancer self-destruct anti-cancer SNPs