User:Jarle Pahr/Genomics: Difference between revisions
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International HapMap Project: http://hapmap.ncbi.nlm.nih.gov/ | International HapMap Project: http://hapmap.ncbi.nlm.nih.gov/ | ||
Single Nucleotide Polymorphisms (SNPs) are often inherited together. The genotypes at some SNPs may thus be predicted by the genotype at one or more other SNPs. Groups of co-inherited SNPs are called "haplotypes". The HapMap project identifies common haplotypes and "tag" SNPs that uniquely identifies haplotypes. | |||
From http://hapmap.ncbi.nlm.nih.gov/whatishapmap.html : | |||
" The number of tag SNPs that contain most of the information about the patterns of genetic variation is estimated to be about 300,000 to 600,000, which is far fewer than the 10 million common SNPs." | |||
'''Blogs:''' | '''Blogs:''' |
Revision as of 17:01, 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/)
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/
Single Nucleotide Polymorphisms (SNPs) are often inherited together. The genotypes at some SNPs may thus be predicted by the genotype at one or more other SNPs. Groups of co-inherited SNPs are called "haplotypes". The HapMap project identifies common haplotypes and "tag" SNPs that uniquely identifies haplotypes.
From http://hapmap.ncbi.nlm.nih.gov/whatishapmap.html : " The number of tag SNPs that contain most of the information about the patterns of genetic variation is estimated to be about 300,000 to 600,000, which is far fewer than the 10 million common SNPs."
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