Question: Recessive Mutation
0
gravatar for peris
5.9 years ago by
peris120
United States
peris120 wrote:

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.

vcf exome-sequencing • 1.8k views
ADD COMMENTlink modified 5.9 years ago by Zev.Kronenberg11k • written 5.9 years ago by peris120
1

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

ADD REPLYlink written 5.9 years ago by Pierre Lindenbaum122k

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

ADD REPLYlink written 5.9 years ago by peris120

Do you have parents as well or just probands?

ADD REPLYlink written 5.9 years ago by Aaronquinlan11k

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

ADD REPLYlink written 5.9 years ago by peris120
1
gravatar for Zev.Kronenberg
5.9 years ago by
United States
Zev.Kronenberg11k wrote:

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.

ADD COMMENTlink written 5.9 years ago by Zev.Kronenberg11k

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.

ADD REPLYlink written 5.9 years ago by peris120

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

ADD REPLYlink written 5.9 years ago by Zev.Kronenberg11k
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