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.
what would you suggest in a first time ? what would be your strategy ?
In the long term I will try to do analysis toward identification of causative recessive mutation.
Do you have parents as well or just probands?
I have only pro-bands which are cousins or siblings.
The VAAST pipeline does exactly what you are asking:
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.
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.
VAAST has a recessive and dominant model of inheritance. I would encourage you to try the VAAST tutorial.
Login before adding your answer.
Use of this site constitutes acceptance of our User Agreement and Privacy