zhanxw / rvtests

Rare variant test software for next generation sequencing data
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'setFile' format 0-based or 1-based ? refFlat: only exons ? #130

Open lindenb opened 2 years ago

lindenb commented 2 years ago

Hi, thank your for writing rvtests.

A quick question: if the setFile format

And in the refFlat format: do you only consider the exons or the whole transcript (including introns) ?

thank you.

dajiangliu commented 2 years ago

VCF is following 1-based, and we are following that. Thanks!

All the best, Dajiang

Associate Professor Co-Chair, Bioinformatics and Genomics Graduate Program Dept. Public Health Sciences Institute of Personalized Medicine Penn State College of Medicine, ASB 4301C Email: @.*** URL: https://dajiangliu.blog https://dajiangliu.blog Tel: +1-717-531-4178

On Mon, Jan 17, 2022 at 12:24 PM Pierre Lindenbaum @.***> wrote:

Hi, thank your for writing rvtests.

A quick question: if the setFile format

  • half-closed 0-based like bed ?
  • or open 1-based like gtf/gff ?

?

thank you.

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