User:Jarle Pahr/Genomics
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/)
NA12878 datasets: https://docs.google.com/spreadsheet/ccc?key=0ArAo1qqJJDHQdHo0U1FzQV9JYVZhdnh2TGtlb1NQZXc#gid=0
Single Nucleotide Polymorphisms (SNPs):
http://www.isogg.org/wiki/Single-nucleotide_polymorphism
Personal Genome Project (PGP): http://www.personalgenomes.org/
SNPedia: http://www.snpedia.com/index.php/SNPedia
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. "
Promethease: http://snpedia.com/index.php/Promethease
Blogs:
SNPedia blog: http://snpedia.blogspot.no/
http://www.genomesunzipped.org/
Public genomes:
http://www.snpedia.com/index.php/Genomes
DTC genomics companies:
Book - Exploring personal genomics: http://exploringpersonalgenomics.org/
Bibliography:
SNPedia: a wiki supporting personal genome
annotation, interpretation and analysis: nar.oxfordjournals.org/content/40/D1/D1308.long
http://www.ncbi.nlm.nih.gov/pubmed/18154681?dopt=Abstract
Se also:
dbSNP database: http://www.ncbi.nlm.nih.gov/projects/SNP/
http://en.wikipedia.org/wiki/Full_Genome_Sequencing