Features - SeqOne Genomics

SeqOne understands the specific challenges when delivering clinical routine genomic analyses at scale. Bearing this in mind, we have developed functionalities that boost your team’s efficiency while improving the accuracy and relevance of the results.

Automated data upload

SDS SeqOne Data Sync: Optional local software module that automates data import from the sequencer and manages information flow between the secure SeqOne cloud and the user’s local data sources.

Quality control tools

Tools that provide detailed coverage information at the run, sample, exon and base-by-base level.

Data validation and identity tracking

A complete set of data validation tools and genotype-based identity tracking that reduces the risk of errors.

Catalog of bioinformatic applications

A set of applications each highly optimized for specific medical purposes, including their own data validation, quality control, bioinformatics and interpretation tools.

Visual interpretation environment

An easy to use interpretation environment that reduces the time it takes to analyze genomic data from hours to minutes.

ACMG Ranking

Automated ACMG ranking with the option for the user to override the ACMG tags assigned by the system, if required with new clinical data.

Integrated annotation databases

Access to the most popular public and commercial databases are included.

A.I.-driven variant prioritization

SeqOne Rank performs automated variant prioritization to ensure that most actionable variants are always at the top of the list.

HPO variant prioritization

Ability to integrate standardized HPO (Human Phenotype Ontology) data into the analysis which provides enhanced variant prioritization.

Open, secure, shared variant knowledge base

Variant knowledge base (VKB) lets your team collect and securely share knowledge regarding variants with full import and export capabilities.

Annotation change alert

The GenomeAlert! system monitors frequent updates to public annotation databases and notifies your team when these changes impact previously analyzed results.

In-silico panels

Allows you to select the genomic regions that you want to interpret by restricting the analysis to a user-defined manifest.

Manages all data types

Support for gene panels, exomes, whole genomes and RNA-seq data as well as meta-data such as phenotypes.

Automated clinical report generation

A clinical report “wizard” that automatically inserts relevant information into a pre-formatted, modifiable clinical report.

Traceability

The platform logs all information to ensure complete traceability of every analysis from raw data to the clinical report.

Ultra-secure, scalable architecture

An architecture built on the latest big data and PaaS (Platform as a Service) technologies with public/private key encryption, which ensures maximum performance and data security.