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We conduct Genetic Testing utilizing Whole Genome (WG) sequencing data obtained from Blood, Urine, and Saliva samples. We analyze DNA/RNA sequencing data of your genome by employing advanced Bioinformatics technologies on the AWS cloud, thereby providing you with convenient access to comprehend your genomic information pertinent to your interests.
We offer completely annotated results in VCF files. Additionally, we supply raw files such as FASTQ and BAM files upon client request.
We gather clinical information about patients from clinicians. By concentrating on clinical terminology, we identify genes associated with phenotypes and customize a list of genes impacted by sequence and/or structural variations. Ultimately, we deliver VCF files along with table formats to our clients as the outcomes of the phenotype-mapped genomic variations.
We gather RNA-Seq raw data in FASTQ format from clients or collaborators and process it through a comprehensive workflow to obtain results related to Gene Expression, RNA fusion with Single Nucleotide Variants (SNVs), and all RNA-related outcomes that enable you to acquire intricate RNA-seq insights relevant to your research needs. Additionally, we combine DNA-Seq (Whole Genome Sequencing) and RNA-Seq (Whole Transcriptomics) data from the same individual and conduct an integrated study to determ
The specific expression of genes enables the compilation of a list of genes linked to a phenotype, along with their expression levels in the specimen. Additionally, we conduct a differential expression analysis of the client's sample by contrasting the expression profile with population-level cohorts to gain insights into wthe relative expression of each gene that the clients wish to investigate.
Isoforms represent various forms of mRNA molecules that arise from the splicing mechanism of a gene. Initially, we annotate all potential isoforms from the RNA-seq data and independently quantify the expression levels of each isoform for a given gene. Furthermore, we have the capability to compare the expression profiles of isoforms with the RNA-seq profiles of the client's family members to comprehend the differential usage of isoforms within the family.
We possess the complete capability to conduct haplotype phasing of the entire genome utilizing raw sequencing data alignments derived from both DNA and RNA sequencing assays. Through this integration, we are assured of our ability to identify Allele Specific Expression (ASE) patterns and deliver comprehensible reports on the relative expression of two alleles in diploid individuals exhibiting expression imbalances, which may contribute to phenotypic variation and disease pathophysiology.
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