Welcome

We provide fully annotated results in format of VCF files. We also provide raw files like FASTQ and BAM files on clients request. 

We collect list of clinical information of patients from Clinicians. Focusing on the the clinical terms, we derive phenotype associated genes and tailor list of the genes affected through sequence and/or structural variations. Finally we provide VCF files as well as Table formats to the clients as results for the phenotype mapped genomic variations.

Sample specific gene/isoform expression allow to get list of the genes associated with phenotype along with their level of expression in the specimen. We also perform differential expression analysis of the client's sample by comparing the expression profile with population level cohorts to understand relative expression of every genes the clients desired to study.

Isoforms are diverse form of mRNA molecules emerged through splicing mechanism of a gene. We first annotate every possible isoform from the RNA-Seq data and quantify expression level of every isoforms independently for a gene. We are also capable to compare the isoforms' expression profile with RNA-Seq profile of the client's family members to understand differential isoform usage in family.

We are fully capable to performs haplotype phasing of whole genome using raw sequencing data alignments from both DNA and RNA sequencing assay and provide measures of haplotypic expression for RNA-seq assays. Through the integration, we are confident to detect Allele Specific Expression (ASE) pattern and provide interpretable reports on relative expression of two alleles in diploid individuals with imbalance expression which potentially contribute to phenotypic variation and disease pathophysiol