Absolute/Hapseg on Exome (WES) Data?
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8.6 years ago
John St. John ★ 1.2k

I have recently gotten Absolute working with whole exome sequencing data, but I really wanted to use the information present in phasing allele specific copy number ratios that Hapseg gives to help out with the identifiably problem (multiple similar solutions, for example see http://bioinformatics.oxfordjournals.org/content/early/2014/04/21/bioinformatics.btu174.abstract). Rather than giving up and using a different tool, I was wondering if anyone has had success using HapSeg+Absolute with WES input, or doing something similar to prepare WES data for Absolute in a similar phased haplotype specific CNA way for Absolute as input? I really like how Absolute includes a prior over various known karyotypes in it's likelihood model, which I haven't seen in other methods yet.

Thanks!

next-gen absolute hapseg tumor purity exome • 5.8k views
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I second Christian's request. If I get it running, maybe I can answer your question :-)

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Have you succeed in purity and ploidy estimateing on WES data ?

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Would you mind posting the steps it took to get Absolute running on your WES samples?

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7.5 years ago
shlee ▴ 80

Although the algorithm is in beta, you can try AllelicCapseg. Contact CGA at recapseg@broadinstitute.org, and ask to be directed to the AllelicCapseg download page. AllelicCapseg segments sequencing data, including whole exome sequences, in a manner that is sequencing platform independent. The AllelicCapseg to ABSOLUTE workflow is recommended for sequence data.

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Are there any updates on the beta of AllelicCapseg? I have contacted Broad about this, but haven't heard back.

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