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Uncovering genetic disorders and inheritance patterns through accurate match of genomic changes to patient's phenotypic traits
Comprehensive data analysis and interpretation from raw input to clinical insights
Powered by the iFlow platform, the GeneSpect Hereditary Reporter streamlines the detection of genetic variants responsible for the onset of inherited diseases. It guarantees an exhaustive analysis, from processing raw genetic data to delivering a comprehensive clinical report, providing profound insights into the connection between a patient's phenotype and their unique DNA profile.
Raw genetic data
FASTQ / VCF files
Scope of analysis
Capture the patient’s phenotype and symptoms or select from different options to design a panel of genes for further analysis
Compose dedicated panel of genes
Based on your expertise and input data
Secondary analysis
Advanced data processing and quality check in order to detect SNVS, INDELS, SV and CNVS within selected genes
Tertiary analysis
Automatic variant annotation using proprietary algorithms and renowed genomic databases
Manual variant filtering
Manual variant selection and re-classification based on user expertise
Report generation
Our workflow has the capability to compose a panel of genes that precisely align with the patient's phenotypic description, enabling targeted analysis, even in cases where a conclusive diagnosis is still pending. Alternatively, users can choose from a selection of pre-designed gene panels specifically linked to a particular disease or a group of related conditions, offering versatility and ease of use.
01
Phenotype-related genes
Capture the patient's phenotype and symptoms through text or HPO/OMIM terms. Our system will then automatically generate a gene panel that best matches the provided phenotype.
02
Disease-related genes
Create an account and easily upload your sample with raw NGS data.
03
Ready-to-use gene panels
Create an account and easily upload your sample with raw NGS data.
04
Individual gene selection
Create an account and easily upload your sample with raw NGS data.
According to The American College of Medical Genetics and Genomics
and the Association for Molecular Pathology (ACMG/AMP), we analyze all characteristics included in minor categories criteria that concern different gene and variant features supporting its pathogenic or benign character.
We score each variant from 0 to 1 for fulfilling any of the aforementioned ACMG/AMP minor categories criteria. The score reflects the certainty level of the variant assignment, where higher scores denote higher confidence. The final ACMG score is a weighted sum of the gained subcategory points. We use negative weights for the benign and positive for the pathogenic subcategories. The absolute values of the applied weights correspond to the given subcategory importance. Finally, we classify the variant into one of the major categories: pathogenic, likely pathogenic, benign, likely benign, or of uncertain significance, according to the final score (see Figure 1). Note, however, the score itself constitutes a continuous pathogenicity predictor. The score may be particularly convenient for the uncertain variants reevaluation. See our whitepaper for detailed information on the scores combining algorithms.
Considering the temporal delays in widespread knowledge sharing and the ongoing discovery of the genetic basis of hereditary diseases, GeneSpect Hereditary Reporter enables manual, post-analytical variants filtering, providing scientists to introduce their invaluable knowledge and experience to the final outcome. Our solution provides continuous insight into tertiary analysis outcomes. View classifications and annotations of filtered variants. Customize criteria such as variant quality, AF, genotype, ACMG score, and more to generate the report.
As a final result, a complete report is generated, that summarize clinically significant findings. We provide a deep insight into all variants classified as pathogenic, likely pathogenic or VUS, highlighting associated diseases and their inheritance pattern. Moreover, given the inheritance pattern of the damaged gene, we search for inheritance pattern match to define whether the patient’s genotype is a probable cause of the disease. Along with automated report, we also share additional data: quality check reports, .bam files, intermediate files generated during variant calling and annotation and IGV snapshots for each relevant variant.
Our reports are fully customizable, allowing them to be tailored to the specific criteria of research laboratories and research objectives. This flexibility ensures that each report serves as a precise and adaptable tool for diverse scientific inquiries.
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