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Data on Recombination rate and Gene Positions in Humans


I am looking for estimates of per base pair recombination rate in humans and indication on gene positions. The goal is to be a able to plot recombination rate in the y-axis and position (in bp) along all chromosomes in x-axis. Then add the genes on the graph.

I have never had to search for this kind of data. Can you give me some hints of where I could find these data into a simple format like the simple table presented below?

> Gene Positions from to 1145146 1147112 1568742 1570012… > Recombination rate from to r 1 156787 1.2*1e-9 156788 256888 2*1e-8…

A good baseline for this type of research in human genetics is Standards and guidelines for the interpretation of sequence variants from ACMG. It is a guideline for clinicians, and it gives a good sense of good variants data, bad variants data and setting up confidence level.

Try to consolidate data from:

Population databases

  1. GWAS databases

    • Exome Aggregation Consortium

    • 1000 Genomes Project (there is data in vcf format which is pretty much what you need)

  2. SNV databases

    • dbSNP (it is uncurated so you got to be hypercritical)

Disease databases

  • ClinVar (be aware "12% of interpreted variants have ≥2 submitters in ClinVar , and 21% are interpreted differently")
  • OMIM
  • HGMD (it is a gold standard as it is curated, but you could only search for variants but not collect data because you could not download it unless you pay for it)