Question: Statistical Model For Genotyping Based On Putative Structural Variants
0
gravatar for michealsmith
7.1 years ago by
michealsmith740
michealsmith740 wrote:

Suppose now I've identified putative structural variants (for example deletion) based on discordant read pair and split-read approach. And I would like to further look at the read-depth information within these callings, for both additional supporting evidences (for example, I would toss out the putative callings if read density is quite high within candidate callings of deletion), and genotyping (to know it's heterozygous or homozygous deletion).

I know basically we need to calculate the normalized average read depths within the candidate callings. But I'm wondering what model/statistics I could use? Say, Gaussian mixture model? Any other ideas?

Thanks

sv genotyping • 1.2k views
ADD COMMENTlink written 7.1 years ago by michealsmith740
0
gravatar for zam.iqbal.genome
7.0 years ago by
United Kingdom
zam.iqbal.genome1.7k wrote:

I think this paper by Bob Handsaker should help:

http://www.nature.com/ng/journal/v43/n3/full/ng.768.html

best

Zam

ADD COMMENTlink written 7.0 years ago by zam.iqbal.genome1.7k
Please log in to add an answer.

Help
Access

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.
Powered by Biostar version 2.3.0
Traffic: 2126 users visited in the last hour