Question: Chr.15q11-13 Bioinformatics Study - suggestions of methods to identify rare variants associated with a particular phenotype.
gravatar for jrodgers3
7 days ago by
jrodgers30 wrote:

Hi there,

I am currently carrying out a bioinformatics-based Research Project utilising the 100k Genomes Project Data.

My research area is concerned with structural variants in the 15q11-13 region.

I have 169 HPO I.D's (phenotypes) known to be associated with 15q variation.

I have a few thousand patients who are reported to have at least one of these HPO I.D's.

I have a few parameters to consider:

  • Should I be focusing on a smaller area of the genome i.e. a particular gene
  • Is it a wise idea to just focus on the rarer HPO I.D's
  • Should I look at CNVs or SNVs
  • Family based methods or an association-type study

Does anybody know of any good published papers that utilise a method which may be useful in my research?

I am just looking for some guidance on what sort of approach to take analysis wise, it all feels very vague at the minute. Any suggestions would be much appreciated.

Thank you for your time.

R gene genome • 72 views
ADD COMMENTlink modified 7 days ago by finswimmer3.6k • written 7 days ago by jrodgers30
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