mitoNGS / MToolBox

A bioinformatics pipeline to analyze mtDNA from NGS data
http://sourceforge.net/projects/mtoolbox/?source=navbar
GNU General Public License v3.0
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interpretation of summary file #36

Open Pilibeibei opened 7 years ago

Pilibeibei commented 7 years ago

I am not very clear about the number of variants in summary file, which includes "N. of homoplasmic variants" "N. of heteroplasmic variants HF>=0.8" and "N. of heteroplasmic variants HF<0.8"

The readme file does not say anything about the definition for homoplasmic variants. Based on your paper (Bioinformatics 2014), "Sample-specific mitochondrial variant alleles associated to these mother-child pairs were grouped in three different bins of heteroplasmy: lowheteroplasmy (≤10%), heteroplasmy (>10% and <90%) and homoplasmy (≥90%)", does this mean, in the summary file, the homoplasmic variants are the variant with HF≥90%? If this is correct, the "N. of heteroplasmic variants HF>=0.8", should be the N. of heteroplasmic variants 0.9>HF>=0.8, right?

Thanks