Recessive Mutation
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8.2 years ago
peris ▴ 120

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.

exome-sequencing vcf • 2.2k views
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what would you suggest in a first time ? what would be your strategy ?

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

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Do you have parents as well or just probands?

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

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8.2 years ago

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.

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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.

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

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