Pairend NGS Cloud
NGS Cloud is an AI-supported, cloud-based genetic data analysis platform dedicated to precision medicine. It offers straightforward interpretation of genetic data, unravels the clinical significance of data, and supports clinical decision-making with automated and expert analysis. The platform integrates advanced bioinformatics pipelines, literature mining, and up-to-date gene-phenotype relationship data to increase diagnostic yield, reduce analysis time, and improve clinical accuracy. It employs advanced algorithms like GENIUS for genotype-phenotype matching and variant prioritization, automates variant classification according to ACMG/AMP guidelines, and supports reanalysis with literature updates. The platform also emphasizes data security, privacy, and compliance with regulations such as GDPR and KVKK.
Industries
Nr. of Employees
small (1-50)
Pairend NGS Cloud
Acıbadem, Çeçen Sokak No.: 25 D16, Üsküdar / İSTANBUL
Products
Cloud genetic data analysis platform
Web-based platform that integrates automated bioinformatics pipelines, phenotype-driven prioritization, CNV/SV detection, ACMG/AMP classification automation and report generation.
Resilient client-side file transfer tool
Downloadable client utility to upload large genomic datasets reliably, designed to resume or complete transfers despite intermittent internet connectivity.
Cloud genetic data analysis platform
Web-based platform that integrates automated bioinformatics pipelines, phenotype-driven prioritization, CNV/SV detection, ACMG/AMP classification automation and report generation.
Resilient client-side file transfer tool
Downloadable client utility to upload large genomic datasets reliably, designed to resume or complete transfers despite intermittent internet connectivity.
Services
Cloud-hosted service that accepts NGS data (FASTQ/BAM/VCF), performs automated bioinformatics processing, variant prioritization, classification and generates customizable clinical reports.
Multiple secure data ingest options including browser upload, server-to-server transfer, URL/cloud-import and a client-side resilient uploader to handle unstable internet.
On-demand expert team services for manual variant interpretation, counseling and clinical/technical queries.
Reanalysis of previously uploaded data using updated knowledgebase and literature-mined information within a defined free-reanalysis period.
Time-limited trial registration to evaluate the cloud-based analysis platform.
Cloud-hosted service that accepts NGS data (FASTQ/BAM/VCF), performs automated bioinformatics processing, variant prioritization, classification and generates customizable clinical reports.
Multiple secure data ingest options including browser upload, server-to-server transfer, URL/cloud-import and a client-side resilient uploader to handle unstable internet.
On-demand expert team services for manual variant interpretation, counseling and clinical/technical queries.
Reanalysis of previously uploaded data using updated knowledgebase and literature-mined information within a defined free-reanalysis period.
Time-limited trial registration to evaluate the cloud-based analysis platform.
Expertise Areas
- Clinical variant interpretation
- Bioinformatics pipeline automation
- Phenotype-driven variant prioritization
- Copy-number and structural-variant analysis
Key Technologies
- Short-read next-generation sequencing
- FASTQ / BAM / VCF file handling
- AI/ML-driven variant prioritization
- Ontology harmonization (HPO, SNOMED CT, Orphanet, MeSH)
News & Updates
A case where NGS Cloud reached diagnosis within minutes using AI-supported analysis of WES data.
A case demonstrating holistic CNV detection approach in a deceased neonate with complex phenotype.
A case where NGS Cloud identified a heterozygous deletion in critical region of DiGeorge Syndrome.
Overview of NGS Cloud's automatic variant prioritization and analysis capabilities.
Details on ACMG/AMP guidelines for variant classification implemented in NGS Cloud.
Discussion on gene-phenotype databases and their integration into NGS Cloud.
A case where NGS Cloud reached diagnosis within minutes using AI-supported analysis of WES data.
A case demonstrating holistic CNV detection approach in a deceased neonate with complex phenotype.
A case where NGS Cloud identified a heterozygous deletion in critical region of DiGeorge Syndrome.
Overview of NGS Cloud's automatic variant prioritization and analysis capabilities.
Details on ACMG/AMP guidelines for variant classification implemented in NGS Cloud.
Discussion on gene-phenotype databases and their integration into NGS Cloud.