Difference between revisions of "User:Jarle Pahr/Genomics"
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Revision as of 14:08, 27 March 2013
Notes on personal genomics:
De novo mutations occur at <100 per generation: http://massgenomics.org/2012/08/de-novo-mutations-and-human-disease.html
The NA12878 genome from "Utah pedigree 1463" may be the genome that has been sequenced the most times. (http://blog.goldenhelix.com/?p=1725). It is a candidate for use as a reference genome with respect to sequencing quality. (http://nxseq.bitesizebio.com/articles/which-way-forward-in-ultra-high-throughput-genomic-sequencing-reference-materials-and-performance-measurements/)
Single Nucleotide Polymorphisms (SNPs):
From SNPedia: "SNPedia is a wiki investigating human genetics. We share information about the effects of variations in DNA, citing peer-reviewed scientific publications. It is used by Promethease to analyze and help explain your DNA. "
Personal Genome Project (PGP): http://www.personalgenomes.org/
SNPedia blog: http://snpedia.blogspot.no/
DTC genomics companies:
Book - Exploring personal genomics: http://exploringpersonalgenomics.org/
SNPedia: a wiki supporting personal genome annotation, interpretation and analysis: nar.oxfordjournals.org/content/40/D1/D1308.long
dbSNP database: http://www.ncbi.nlm.nih.gov/projects/SNP/