This is a test version of Biostars. For the public version, visit https://www.biostars.org.
best practices in trio snp and cnv analysis

Hi all,

I have Illumina omni5 array data for a family affected by a different grade neurological disorder. I performed snp and cnv calling for each family member with Genome Studio and now I would like to discover specific events causing the different disorder grade in the affected individuals. Do you know any best practices paper or bioinformatic protocol for this kind of analysis, the QC performed and the software used?

Thanks in advance.

snp cnv gwas trio omni5
• 2,778 views • link
written by mcdm • mcdm

My team uses PLINK/SEQ - it has denovo and cnv-denovo sub-programs that help you discover de novo and transmitted variants.

• 0 views • link
written by Ram Ram

Thanks I though it was only used for NGS data. I will ckeck it.

• 0 views • link
written by mcdm • mcdm

You're correct, it's only for NGS data, AFAIK. I'm sorry - I did not (and still do not) know what an omni5 array was.

• 0 views • link
written by Ram Ram

0 answers

No answers yet.

Log in to answer this question.

More posts like this