Recessive Mutation

Question

[peris]

I want to give a try to identify recessive mutation for a disease state. I have sequenced multiple exomes for a disease and have generated the multi-sample vcf file. Can someone suggest how can identify the recessive mutation from my dataset.

Thanks and reagrds.

[Pierre Lindenbaum]

what would you suggest in a first time ? what would be your strategy ?

[peris]

In the long term I will try to do analysis toward identification of causative recessive mutation.

[Aaronquinlan]

Do you have parents as well or just probands?

[peris]

I have only pro-bands which are cousins or siblings.

Answer 1

[Zev.Kronenberg]

The VAAST pipeline does exactly what you are asking:

http://www.yandell-lab.org/software/vaast.html

here is an example of how VAAST was used on human data:

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet 89(1):28-43, 7/2011. e-Pub 6/2011. PMCID: PMC3135802.

[peris]

Hi Zev, Thanx for your reply. But i think VAAST cant identify the recessive mutations. I am sorry if i misunderstood it as I m new to human genetics.

[Zev.Kronenberg]

VAAST has a recessive and dominant model of inheritance. I would encourage you to try the VAAST tutorial.