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Old 01-07-2013, 11:37 AM   #1
Location: St Louis, USA

Join Date: Nov 2011
Posts: 14
Default DeNovoGear - Detecting denovo SNPs and INDELs in trios using NGS data.

Hi all,
I'd like to introduce our tool DeNovoGear,

- Denovogear uses a Bayesian approach to detect denovo SNPs and INDELs in trios using NGS data. It calculates a posterior probability for a denovo call by taking into account the genotype likelihoods for each sample at every locus. It gives the user the option to set mutation rate priors according to the data. Separate models have been developed for the autosomes and the X chromosome (based on the sex of the offspring).
- Denovogear also implements a haplotype based phasing algorithm which allows the users to phase denovo mutations to infer the parent of origin for a SNP/INDEL.
- The denovogear model has also been extended to compare paired samples which allows user to call SNP's and INDELs present in only one of the samples. The paired sample model can be used for example to call somatic mutations between tissues, for comparing single cell samples with tissue samples and for comparing tumor/normal pairs.
- Denovogear is designed to be easy to use, users have the option of compiling from source or downloading an executable version of the program. It takes in a BCF file containing the genotype likelihoods generated by samtools as the input. A PED file is required to describe the relationship between the samples. Denovogear includes the option of producing VCF output. More detailed instructions are available in the README.

Project page -
Comments/Queries contact : aramu at genetics dot wustl dot edu

Feel free to post any questions about the program in this thread, I'll also try to post future updates regarding the program here.
trackavinash is offline   Reply With Quote
Old 02-27-2013, 02:19 PM   #2
Junior Member
Location: St.Louis

Join Date: Feb 2013
Posts: 2

Hi, I have been using your tool and I would like to ask a query about it. I am using it for running paired samples and I am trying to interpret the results in the VCF file-I was taking a look at the REF and ALT tags and there was a case where the REF was C and ALT was T,G,X where the DNM_CONFIG is CT/CC. I was wondering as to how is the ALT as G and X. Thanks
akul is offline   Reply With Quote
Old 01-09-2014, 11:49 AM   #3
Richard Finney
Senior Member
Location: bethesda

Join Date: Feb 2009
Posts: 700

Anybody used this ?
Is this any good ?
Richard Finney is offline   Reply With Quote

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