Mapping methylation pattern and translocation breakpoints
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5.4 years ago
Anu • 0

I want to map methylation pattern (CpG sites) with the translocation breakpoints of the BRCA1 gene. From where I should start? what kind of software i should use to do the mapping?

gene R genome • 1.3k views
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It is unclear which data you have. What do you mean with map methylation pattern?

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DNA methylation can induce genomic instability. It is also known that most hypermethylated genes are found in the regions of high-frequency chromosomal breakpoints across the human genome. Therefore, i am trying to map CpG sites( Methylated regions) and the translocation breakpoints in the Human Cancer Genome using bioinformatics tools.

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It is unclear which data you have.

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What is of interest is the format of data you have. A BED file with the scores, fastq files, BAM files, bigwigs? That will decide what tool to be used (to be used first).

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I don't have my own data. I want to use any methylation database and mutation data database available. I already have the access to the mutation database and i wanted to download some methylation data form a methylation database. Any suggestions?

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I don't have my own data. I want to use any methylation database and mutation data database available. I already have the access to the mutation database and i wanted to download some methylation data form a methylation database. Any suggestions?

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Shouldn't you have individuals of which you have both mutations and methylation before you can draw conclusions

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If we consider one gene like BRCA1, we have the mutation data as well as the methylation data. By "mutation data" ,I meant a specific nucleotide sequence in the gene ( ex: repeat sequence or let's say a CpG island). I want to see how often they all overlap at specific translocation breakpoints ( which are also available in databases) in the gene. But this seems a complicated process.

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Oh, so not actual mutation data. Sure, then you need a bed file of these features and then you can use BEDOPS or bedtools to look or overlaps.

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well, i haven't used BEDOPS before but I'll try. Will it be an issue if we have thousands of genes? Do we need to do one by one?

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Oh no that doesn't really matter. Looking for overlaps between intervals scales pretty well for sorted files.

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Thank you. I will try it!

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5.4 years ago

If you have BED files, you can use BEDOPS bedmap, e.g. at a most basic level:

$ bedmap --echo --echo-map methylatedRegions.bed breakpoints.bed > answer.bed
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