Genome annotation - (Oct/29/2014 )
I read exome sequences from a person.
As a next step I am going to annotate all SNPs with .the causative gene for inherited disease or disease-susceptibility gene, which have been previously reported.
I want to make a genome profile of this person.
Is there any software to perform this analysis?
Alternatively is there any service or company to do this?
Hope this answer is not too late for you.
WGS annotation software:
CanVasDB: An infrastructure for management and analysis of genetic variants from massively parallel sequencing (MPS) projects. The system stores SNP and indel calls in a local database, designed to handle very large datasets, to allow for rapid analysis using simple commands in R. Functional annotations are included in the system, making it suitable for direct identification of disease-causing mutations in human exome- (WES) or whole-genome sequencing (WGS) projects. PubMed : http://www.ncbi.nlm.nih.gov/pubmed/25281234
FamAnn: An automated variant annotation pipeline designed for facilitating target discovery for family-based sequencing studies. PubMed: http://www.ncbi.nlm.nih.gov/pubmed/24395755
Exomiser A Java program that functionally annotates variants from whole-exome sequencing data starting from a VCF file. PubMed: http://www.ncbi.nlm.nih.gov/pubmed/24162188
And if you want to find someone to do this for you:WGS data anaysis and annoytation