Genomize

What Genomize does

Genomize is a privately held clinical bioinformatics company founded in 2014 and headquartered in Istanbul, Turkey, that develops the SEQ Platform — a cloud-based SaaS for next-generation sequencing (NGS) data analysis. The platform ingests raw sequencing input (FastQ, VCF, gVCF) and delivers annotated, ACMG/AMP-classified variant outputs and customizable clinical reports for germline rare disease diagnostics, hereditary cancer, and somatic oncology workflows. SEQ has been deployed in over 450 hospitals and laboratories across more than 30 countries, with over 300,000 samples analyzed to date.

Technically, SEQ combines GATK-based CNV calling (96% sensitivity / 99% specificity), an AI-driven 5-tier variant prioritization algorithm that fuses patient phenotype data with 120+ annotation sources (reported 97% successful prioritization on real-world WES samples), AutoPathogenicity automated ACMG classification across 28 criteria with proprietary VUS+ and VUS++ sub-classes, Extended Annotation across all RefSeq and Ensembl isoforms, somatic analysis aligned with ASCO/AMP/CAP guidelines, and integrated long-read stacks for PacBio HiFi (DeepVariant, Paraphase, Sawfish, TRGT, Mitosaw, MethBat, HiPhase) and Oxford Nanopore (MinION, GridION, PromethION). Multisample (duo/trio) workflows, real-time center-specific genotype/phenotype databases, multilingual reporting, CE-IVD, ISO 13485, ISO/IEC 27001, HIPAA, and GDPR compliance round out the technical and regulatory stack.

Genomize operates a B2B enterprise SaaS business model with annual quote-based subscriptions priced to laboratory size, sample volume, and feature set. Go-to-market combines direct enterprise field sales (Schedule A Demo motion), inside-sales inbound capture via the website, and selective channel partnerships — DKSH Indonesia for Southeast Asia distribution and Oxford Nanopore for long-read customers — alongside technology integrations with Genomenon (Mastermind/CKB) and PacBio. Primary customers are hospitals and clinical genetics laboratories; secondary customers are academic and translational research institutions. A sub-brand Covid19-qPCR diagnostic tool and a standalone Pathogenicity Calculator extend the company's clinical footprint beyond the core SEQ product.

Name

Genomize

Legal name

Genomize Bilişim ve Biyoteknoloji AŞ

Website

https://genomize.com

Company type

Private

Founded year

2014

Operating status

Operating

Headcount range

11–50 employees

Short description

Genomize is a Turkey-based clinical bioinformatics company that sells a cloud-based NGS data analysis SaaS (SEQ) used by hospitals and laboratories in 30+ countries for rare disease diagnostics, hereditary cancer, and somatic oncology interpretation, with ACMG classification and long-read sequencing support.

Ownership category

akta.pro rank

Product category

Clinical Bioinformatics Software

NAICS

Medical Laboratories (621511), Medical and Diagnostic Laboratories (6215), Scientific Research and Development Services (5417)

SIC

Services-Prepackaged Software (7372), Services-Medical Laboratories (8071)

akta.pro primary industry

Genomic Profiling & Sequencing-Based Precision Medicine (HLAAANAA)

akta.pro secondary industries

Genomics & Next-Generation Sequencing (NGS) Services (HLAGANAA), Genetic & Genomic Testing (germline, somatic, carrier, pharmacogenomics) (HLAAALAD), Molecular Diagnostics & Genomics Laboratories (HLAFAMAE)

Keywords

• Clinical NGS analysis
• Genomic variant interpretation
• Bioinformatics software
• Precision oncology tools
• Rare disease diagnostics

Headquarters

HQ city

Istanbul

Offices1 record

Markets served

GTM type

B2B

Offering type

Software

Cost components

Personnel, Technology or R&D, Marketing or Sales, Operations, Infrastructure

Revenue model

1. SEQ Platform SaaS Subscription: Cloud-based software-as-a-service platform for NGS data analysis. Customers access the platform via subscription for variant annotation, clinical diagnosis reports, and genomic insights. Revenue generated through recurring platform subscriptions with quote-based pricing tailored to institutional needs.

Pricing tiers

Go-to-market motion3 records

Distribution channels3 records

Marketing channels9 records

Core offering

Genomize develops and operates the SEQ Platform, a cloud-based CE-IVD certified clinical SaaS that processes next-generation sequencing (NGS) data from raw input (FastQ, VCF, gVCF) through variant annotation, prioritization, ACMG/AMP classification, and clinical report generation. The platform supports whole-genome, whole-exome, and targeted panel workflows for both germline and somatic variants, serving hospitals, clinical laboratories, and research institutions across 30+ countries.

Product overview

Genomize offers a cloud-based genomic data analysis platform centered on the SEQ Platform, complemented by specialized diagnostic tools. The SEQ Platform serves as the core unified product — a CE-IVD-certified clinical NGS analysis solution that handles data from raw sequencing input (FastQ, VCF, or gVCF) through to clinical reporting, supporting whole-genome, whole-exome, and targeted panel workflows for both germline and somatic variants. It is augmented by the Covid19-qPCR module for SARS-CoV-2 diagnostics and the Pathogenicity Calculator for standalone ACMG-based variant classification. The platform's key differentiating capabilities include AI-driven variant prioritization with a 5-tier algorithm, extended annotation across all transcript isoforms, long-read sequencing support (PacBio HiFi and Oxford Nanopore), automated ACMG classification, CNV analysis, and multilingual customizable reporting.

Differentiator

Problem solved

Functional benefit

Brands

• SEQ Platform: Cloud-based NGS data analysis platform providing comprehensive variant annotation, ACMG classification, and clinical reporting for genomic diagnostics.
• Covid19-qPCR
• Pathogenicity Calculator

Products and services

• SEQ Platform Cloud-based clinical genomic analysis and interpretation platform providing comprehensive NGS data analysis from raw sequencing (FastQ, VCF, gVCF) to clinical reporting. Supports whole-genome, whole-exome, and targeted panel sequencing for germline and somatic variants, with AI-assisted variant prioritization (5-tier algorithm), ACMG automated classification, extended annotation across all isoforms, CNV analysis, long-read sequencing support (PacBio HiFi, Oxford Nanopore), multi-sample/trio analysis, and multilingual customizable reporting. Designed for hospitals, clinical genetics laboratories, and medical genetics centers.
• Covid19-qPCR Dedicated qPCR-based diagnostic tool for the detection and quantitative analysis of SARS-CoV-2 (Covid-19) viral genetic material from patient samples, providing quantitative viral load assessment.
• Pathogenicity Calculator Standalone variant pathogenicity assessment tool that classifies genetic variants according to ACMG/AMP guidelines and extended VUS+ and VUS++ tiers to support clinical variant interpretation and prioritization decisions.

Quantifiable outcome

• 97% successful variant prioritization rate in real-world clinical setting (201 WES samples across 102 different diseases)
• +4 more outcomes

Named customers2 records

Segments2 records

Ideal customer profiles2 records

Technology focussed Yes

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Integration3 records

AI capability5 records

Feature10 records

Partnerships

Three partnerships are on record, tiered core.

• Oxford Nanopore TechnologiescoreTechnology or Integration · 7 April 2026Collaborative partnership through Oxford Nanopore Compatible Products Programme. SEQ Platform officially recognized as compatible for analyzing data from Oxford Nanopore's molecular sensing technology. Integration enables seamless processing of long-read data from MinION, GridION, and PromethION devices. Combined workflow delivers enhanced capabilities for structural variants, copy number variations, phasing information, and complex genomic regions.
• DKSH IndonesiacoreChannel Partner/ Reseller/ Distributor · 28 October 2025Strategic distribution partnership to bring SEQ Platform to Indonesian market. DKSH provides sales and marketing services leveraging extensive network and deep expertise in Life Sciences segment. Partnership expands commercial reach and delivers precision genomic solutions via coordinated channel in Indonesia and Southeast Asia.
• GenomenoncoreTechnology or Integration · 27 March 2025Integration partnership to incorporate Mastermind Genomic Intelligence Platform and Cancer Knowledge Base (CKB) data into SEQ Platform. Mastermind provides unparalleled genomic literature database while CKB offers expertly curated somatic variant evidence. Integration enhances variant interpretation capabilities bridging research and clinical applications.

Scale indicators7 records

Recent moves5 records

Expansion highlights6 records

Broad incumbents

• QIAGEN Digital Insights (QCI): Established clinical decision-support and NGS interpretation suite from QIAGEN — broader portfolio player with overlapping variant interpretation, hereditary, and oncology capabilities for hospital labs.
• Illumina DRAGEN / BaseSpace: Dominant sequencing-instrument vendor with integrated secondary analysis (DRAGEN) and cloud interpretation (BaseSpace/Illumina Connected Analytics) — broad incumbent competing for the same bioinformatics budget Genomize targets.

Direct peers

• Congenica: Clinical genomic interpretation platform for rare disease and inherited cancer, serving hospital labs with ACMG-compliant classification — comparable to Genomize's germline interpretation and reporting capabilities.
• Sophia Genetics: Clinical genomics SaaS platform providing NGS data analysis for rare disease, oncology, and hereditary testing to hospitals and labs globally — directly overlapping Genomize's SEQ platform in product, customer base, and CE-IVD-led go-to-market.
• Golden Helix: Clinical genomic interpretation and reporting software for hereditary disease and pharmacogenomics — comparable to SEQ's variant annotation, classification, and clinical report generation for hospital labs.
• PierianDx: Clinical genomics interpretation software for hospital labs, focused on hereditary disease and oncology reporting — directly comparable to Genomize's clinical interpretation and reporting workflow.
• Fabric Genomics (Illumina): AI-driven clinical NGS interpretation suite (now under Illumina) for rare disease and hereditary testing — competes head-to-head with SEQ on automated ACMG classification and clinical reporting.
• DNAnexus: Cloud-based genomics data management and analysis platform used by clinical and research organizations — comparable to Genomize's cloud-hosted NGS interpretation and enterprise SaaS delivery model.
• BC Platforms: Genomic data and analytics platform serving clinical and research labs with interpretation and cohort tooling — comparable to Genomize's NGS analysis and genotype/phenotype database capabilities.

Regional players

• Genomics England / NHS partner platforms: National-scale clinical genomics platforms delivering standardized interpretation pipelines; comparable as large-scale NGS interpretation deployments though tied to specific public health systems.

Market position

Strengths5 records

Weaknesses5 records

Competitive moat5 records

Key risks5 records

Key highlights7 records

Customer concentration

• Xx.com/genomize
• Facebookfacebook.com/genomizeme
• LinkedInlinkedin.com/company/genomize
• Instagraminstagram.com/genomizebio

Compliance5 records

Revenue estimate

Valuation estimate

Number of profiles

Profiles12 records

Funding overview

Funding rounds

Investors

Funding detail is available on the Subscription and Enterprise plan.Contact sales →

M&A

Investments

M&A and investment is available on the Subscription and Enterprise plan.Contact sales →

Frequently asked questions about Genomize