User:Jarle Pahr/Genomics

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Notes on personal genomics:

De novo mutations occur at <100 per generation:

The NA12878 genome from "Utah pedigree 1463" may be the genome that fhas been sequenced the most times. ( It is a candidate for use as a reference genome with respect to sequencing quality. (

NA12878 datasets:

Personal genomics topics

Birth and maternal health

Ruth Landau, MD. Genetic Contributions to Labor Pain and Progress. Clinics in Perinatology Volume 40, Issue 3, September 2013, Pages 575–587.

Compression and storage

Efficient storage of high throughput sequencing data using reference-based compression

CRAM toolkit:

The Human Genome Contracts Again:

Single Nucleotide Polymorphisms (SNPs)

SISRS: SNP Identification from Short Read Sequences:

General Information about dbSNP, Single Nucleotide Polymorphisims, and Genetics:


The number of SNPs in the human genome has been estimated to ~ 10 million (source?).



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. "

The current state of dbSNP:





Human Gene Mutation Databasse:


Online Mendelian Inheritance in Man (OMIM):

Interesting SNPs


  • Polymorphism in LRRK2. Associated with Parkinson's disease.
  • My genotype:GG (normal)


  • Silent mutation in the oxytocin receptor (OXTR) gene.
  • My genotype: AG (reference GG)


  • My genotype: AA (reference: TT)


  • SNP determining eye color?
  • My genotype: GG (minor allele: G)
  • My genotype: AA (normal)
  • "Warrior vs Worrier"
  • My genotype: GG ("warrior")


Genotype imputation for genome-wide association studies.:


See also

expressed quantitative trait loci (eQTL)


Genomics projects

The NHGRI Genome Sequencing Program (GSP):

100k foodborne pathogen genome project

Human Genome Diversity Project

Genome 10K Project

Aims to obtain genomic information for 10 000 vertebrate species.

Cancer Genome Atlas

Human Microbiome Project

1000 Genomes Project

The 1000 genomes project aims to sequence ~2500 samples at 4x to uncover most genetic variants having a frequency of at least 1 % in the populations studied.

An integrated map of genetic variation from 1,092 human genomes

Personal Genome Project (PGP)

"The Personal Genome Project aims to publish the genomes and medical records of 100 000 volunteers. As of March 2013, the number of enrolled participants is about 2500, of which there are available full-genome datasets for about 75. Some participants for which full genome datasets are not available, have uploaded data from genotyping services such as 23AndMe."

See also:

Unofficial wiki:

International HapMap Project

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 : "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."

As part of the HapMap project, new SNPs sites were identified in order to serve as haplotype tags.

A second generation human haplotype map of over 3.1 million SNPs


Colloborative Oncology Gene-Environment Study

Online Mendelian Inheritance in Man (OMIM)

Direct to Consumer (DTC) genotypcing services


Interpretation tools





Genome Biology:

Blogs and commentary

SNPedia blog:

UW Genome Sciences - Distinguished Faculty Interview Series: Joe Felsenstein :

1000$ Genome / economy of sequencing



Genomic hyperbrowser:


Genome Workbench SNP Tools (GST) Quick Start:

Variant annotation tools:

A review of genomic data warehousing systems:

MISO open-source LIMS:



Public genomes

George Church

Craig Venter:

James Watson:

Complete Genomics 69 Genomes dataset:

Genomes unzipped:

Banana genome hub:

Crowdsourcing the Corpasome:

DTC genomics companies

Ethical, Legal and Social Implications (ELSI)

Genomic privacy:


See also: NCBIs interactions with Locus-Specific Data Bases (LSDB):

ALFRED The ALlele FREquency Database:

PheGenI - Phenotype Genotype Integrator:

The Human Gene Mutation Database (HGMD):


Information: General Information about dbSNP as a Database Resource:

dbSNP fact sheet:

Finding Information in a dbSNP Data Report:

SNP faq archive:

NCBI Handbook chapter 5 - the dbSNP database:

dbSNP data content information:

Using dbSNP Data Reports:

Clustered RefSNPs (rs) and Other Data Computed in House:

SNP attributes:


General dbSNP Search Options:

Searching NCbI's dbSNP database:

SNP search:


The database is updated periodically, resulting in a new build number. The current build number (april 2012) is 137. For every new build, refSNPs (rs#) are re-mapped and re-clustered on the latest genome assembly. SNP submissions (ss#) which have the same position in the genome are merged into one rs#. rs numbers which become redundant after merging are not reused. SNPs and indels are not merged, as these are distinct types of "mutational events" (

Note that from Homo Sapiens annotation release 104 and onwards, annotation releases are given separate numbers, distinct from genome build numbers.

rs and ss numbers:

All new submissions are given an ss number. After each mapping, all submissions which are mapped to the same site are clustered in one rs number. The submission (ss number) with the longest flanking sequence becomes the rs cluster exemplar. (

The alleles field:

The order of the alleles listed in the alleles field does NOT carry any biological meaning. Alleles are listed in alphabetical order. Note that some SNPs have different minor alleles between different populations. dbSNP maps SNPs to all major assemblies - the different assemblies sometimes have different alleles at a particular SNP position.

N and Y designations (

"N" is the designation for "tested, but results indeterminate".

"Y" is the designation for genotypes from males for SNPs that map to the X chromosomes

Sample size: There are two sample size numbers: The assay sample size is the number of chromosomes used to ascertain or discover the variation. The population sample size is the number of chromosomes used as the denominator when computing estimates of allele frequencies.

refSNP validation and quality:

"Double hit": refSNPs with both alleles seen at least twice.

Variation functional class ( For each SNP, a functional context is determined by inspecting the flanking sequences, describing the function of the sequence the SNP is located in. Examples are "locus region", "coding synon", "coding non-synon", mRNA-UTR, intron.

If either allele in the variation is a non-synonymous change, then the variation is classified as non-synonymous; otherwise, the variation is classified as a synonymous variation

Global minor allele frequency (MAF):

The minor allele frequency for a given rs, reported with respect to a default global population (currently based on 1000 genomes project data). Given 3 alleles with frequencies of 0.50, 0.49, and 0.01, the MAF will be reported as 0.49. "MAF source": Data source for MAF calculation.

HGVS names:

SNP name(s) according to Human Genome Variation Society nomenclature. See Note that "according to HGVS nomenclature, the allele before the ">" sign is simply the base located on the reference sequence at the position specified in the HGVS name — it does not have to be the major allele." (

Allele origin:

The origin of variant alleles reported by the submitter(s). Possible values are germline, somatic or unknown.

Ancestral allele (

Ancestral allele version, as determined by comparison with Chimpanzee DNA.

Map to genome build: Version number of the genome assembly used for SNP mapping.

Integrated maps: Shows information on the SNP location and mapping in available genome assemblies. The contig alleles on different assemblies are often the same, but not always.

FTP access:




Genome annotation and curation

Concensus Coding Sequence (CCDS) project:





IGS annotation service:

NCBI prokaryotic genome annotation pipeline:



See also

RATT Rapid Anotation Transfer Tool:


Review - The automatic annotation of bacterial genomes.

A semi-automated genome annotation comparison and integration scheme:

Educational and instructional material

Research groups


Sequencing studies in human genetics: design and interpretation:

SNPedia: a wiki supporting personal genome annotation, interpretation and analysis:

Se also:

dbSNP database:

Book - Exploring personal genomics:

UCSC Genome Browser:

CEPH panel:

Compressive genomics:

Efficient storage of high throughput sequencing data using reference-based compression:

Medical genomics and genomic medicine

Notable accomplishments in genomic medicince:

SSAGA, Symptom and Sign Assisted Genome Analysis:

Report on use of medical genetics in Norway (Norwegian):


Prenatal sequencing:

Microarrays and DNA Sequencing Improve Prenatal Testing:

Prenatal Whole Genome Sequencing: Just Because We Can, Should We?


Noninvasive prenatal diagnosis empowered by high-throughput sequencing.:

Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample:

In the news:

Personal genomics

Do-it-yourself genetic testing:

"integrated personal omics profiling" (iPOP):

SeqAnswers personal genomics forum:



Metagenomic Approaches for Exploiting Uncultivated Bacteria as a Resource for Novel Biosynthetic Enzymology:

Untangling Genomes from Metagenomes: Revealing an Uncultured Class of Marine Euryarchaeota: