LOH determination from panel data
Hi everyone!
I'm analyzing data from a patient using a panel of selected genes. I found one clearly pathogenic mutant but found no second apparent mutation (the inheritance of the disease is recessive) and I thought about the possibility of a LOH to explain what I'm seeing in this patient.
It is possible to study the LOH of data coming from a pane with Rl? I have a vcf file and I think I could retrieve the fastq.
Thanks in advance!!!
Gonzalo
• 1,214 views
•
link
written
by
ghernandezv •
0 answers
No answers yet.
Log in to answer this question.
More posts like this
-
What percentage of intronic reads should I expect in single-cell vs single-nuclei?
written by txema.heredia •
-
exome and genome data
written by Eliza •
-
Efficient ways to retrieve all sequences associated with a disease?
written by merzanaeem007 •
-
Query regarding variant calling and reporting
written by luffy •
-
ways to verify positive selection of a mutation with vcf data
written by honglinzhou •
-
intersection of multiple VCF files
written by JoeDoasi •
-
Visualization tool integrating point mutations, copy number alterations, and structural variations
written by brettgao2018
-
Forum: Schema recommendation for a gene sequencing database
written by Ram
-
CNV analysis from exome data (heterozygous vs homozygous)
written by younhee.ko •
-
Identity-By-Descent Used To Narrow Down Targets From Exome Sequencing Data
written by michealsmith
other copy of the gene may be methylated or there could be CNV there - so not necessarily ROH is causative
but you may detect it with PLINK