STRIVE BIOCORP DATA ANALYSIS SERVICES

• Raw Data is demultiplexed for each sample, followed by our in-house bioinformatics pipeline for read mapping, variant calling, and VCF output. Variants are annotated using our in-house and publicly available databases (such as ClinVar, OMIM, CADD, gnomAD), prioritized for evidence-based interpretation, and reported as per ACMG and AMP guidelines.

• Clinical Exome Sequencing provides a rapid and targeted analysis of  clinically relevant genes that are known to be disease associated and curated from databases such as OMIM, HGMD and ClinVar, facilitating quicker diagnosis of suspected genetic conditions.
• Data is processed through our streamlined bioinformatics pipeline for variant calling, followed by annotation using comprehensive databases. Variants are interpreted according to ACMG and AMP guidelines.

• A comprehensive cardio genomic panel focuses on genetic variants related to cardiovascular health, offering insights into genetic predispositions for cardiovascular diseases.
• Comprehensive Cardio Data Analysis covers a range of cardiovascular disorders, including hypertrophic cardiomyopathy, familial hypercholesterolemia, and arrhythmias.
• Detailed reporting aligned with ACMG and AMP guidelines ensures accuracy and clinical relevance in cardiovascular genetic testing.

• Hereditary Cancer Data Analysis covers breast cancer (BRCA1 and BRCA2 genes), ovarian cancer (BRCA1 and BRCA2 genes), colorectal cancer (APC, MLH1, MSH2, MSH6, PMS2 genes), and other hereditary cancers.
• Bioinformatics analysis includes variant calling, annotation using comprehensive databases, and clinical interpretation based on ACMG and AMP guidelines.

The coding regions of all targeted genes are captured and sequenced on an Illumina platform.Data is processed through our streamlined bioinformatics pipeline for variant calling, followed by annotation      using comprehensive databases. Our Myeloid Panel enables concurrent analysis of both DNA and RNA from blood and bone marrow samples, ensuring comprehensive coverage of relevant targets.  

• The size of each STR allele is determined for both the donor and recipient pre-transplant to identify unique loci.
• Two informative loci are selected for subsequent testing.
• Each specimen is tested in duplicate at each locus to ensure accuracy and reliability.
• This methodology allows precise monitoring of donor cell engraftment and early detection of potential complications, ensuring timely clinical interventions.

• Germline CNV Calling detects Copy Number Variations (CNVs) in germline DNA, providing insights into genetic predispositions and conditions.
• High sensitivity (75-99%) in CNV detection specialized CNV calling algorithm that compares mean read depth and distribution across target regions in test samples against multiple matched controls. Zygosity of variants within each target region reinforces CNV calls, ensuring reliable results.

• Somatic CNV Calling analyzes Copy Number Variations (CNVs) in tumor DNA compared to normal tissue, aiding in cancer treatment planning.
• Robust Bioinformatics pipelines filtering germline variants and  annotating comprehensive databases focused on somatic variants as COSMIC, TCGA, Clinvar etc. , prioritization of variants is done based on clinical indications and genotype information for accurate interpretation and clinical reporting.

• Germline SNV Calling identifies Single Nucleotide Variants (SNVs) in germline DNA, crucial for precise genetic diagnosis and carrier screening.
• Germline SNV Calling covers a broad spectrum of genetic disorders, including cystic fibrosis (CFTR gene), familial hypercholesterolemia (LDLR gene), and inherited arrhythmias (RYR2, SCN5A genes).

•  Somatic SNV Calling identifies somatic Single Nucleotide Variants (SNVs) in tumor DNA, crucial for targeted cancer therapies.
• Rigorous bioinformatics pipelines filtering germline variants in variant calling and annotating utilizing comprehensive databases focused on somatic variants as COSMIC, TCGA, Clinvar etc. , prioritization of variants is done based on clinical indications and genotype information for accurate interpretation and clinical reporting.