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