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

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

Genomics projects:

1000 Genomes Project: http://www.1000genomes.org

Personal Genome Project (PGP): http://www.personalgenomes.org/

International HapMap Project: http://hapmap.ncbi.nlm.nih.gov/

Blogs:

SNPedia blog: http://snpedia.blogspot.no/

http://www.genomesunzipped.org/

http://massgenomics.org

Public genomes:

http://www.snpedia.com/index.php/Genomes

DTC genomics companies:

https://www.23andme.com/

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

http://en.wikipedia.org/wiki/Personal_genomics

http://nar.oxfordjournals.org/content/40/W1/W76.abstract