How to define single base genotype for mixed results

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9.3 years ago

arman4 ▴ 10

Hey,

I am an amateur person interested in exploring my genome, I have finally got my Exome data, but I have found some strange result, for example there are some bases which despite having high depth (number of read count), still have something like 60/40 percent between two different reads, for example in 40 percent of reads it is T and in 60 percent it is C. Here is a sample out of my exome:

Location = chr15:73,852,467
Total count: 99
A      : 0
C      : 60  (61%,     31+,   29- )
G      : 0
T      : 39  (39%,     18+,   21- )
N      : 0

Can anyone tell me what it means to have such a result? is it really possible for sequencer to do 39 wrong readings (and all of them a specific result) in 99 tries?

sequencing gene • 1.4k views

ADD COMMENT • link updated 2.1 years ago by Ram 44k • written 9.3 years ago by arman4 ▴ 10

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Looks like you got a C from mum and a T from dad, or vice versa.

ADD REPLY • link 9.3 years ago by ethan.kaufman ▴ 380

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Thanks Ethan! I totally missed that possibility.

ADD REPLY • link 9.3 years ago by arman4 ▴ 10

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