ultimatesource / denovogear

A program to detect denovo-variants using next-generation sequencing data.
http://www.nature.com/nmeth/journal/v10/n10/full/nmeth.2611.html
GNU General Public License v3.0
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Trio with Father, Sister, Brother -- getting missing trio messages -- is this normal? #299

Closed saliksyed closed 5 years ago

saliksyed commented 5 years ago

Hi All,

I am running a study with the following information: -- Father (wild type, unaffected) -- Child1 (male, proband, affected) -- Child2 (female, affected)

I'd like to prioritize variants using denovogear and created the following .ped file:

##PEDNG v1.0
#Family Individual Father Mother Sex Phenotype
FAM FAM_a   .   .   male    0
FAM FAM_b   FAM_a   .   male    1
FAM FAM_c   FAM_a   .   female  1

When running denovogear I often get the following message:

BCF Parsing Error! Unable to find trio!
Members missing : {N}

Where N will vary between 1,2 or 3. Is this expected behavior? Why would it say that it was missing for 3 -- does that mean the location just matches the reference genome for all 3 family members?