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Publications

Explore our range of publications, from published scientific papers to industry articles and thought leadership.

Increase diagnostic yield with class-leading variant prioritization

Efficient interpretation of NGS data with higher diagnostic yields is critical to relieve backlogs of cases, increase sample throughput and improve outcomes.

Analyze, Interpret and Report NGS Data Faster than Ever

Reduce complex clinical genomic analysis times from an average of 20 hours to 30 minutes, while increasing diagnostic yield by 30%

Congenica Splice Site Finder White Paper

Congenica Splice Site Finder was designed as an updated implementation of Splice-Site-Finder that is fully integrated into the Congenica platform.

Epilepsy, the unmet needs

How genomic medicine is helping overcome the most pressing unmet needs in epilepsy

Sentieon DNAseq Whitepaper – Improve Read Mapping & Variant Calling

Evaluation of Sentieon DNAseq in Congenica demonstrating its accuracy and resource usage when used as a replacement for the bwa/GATK variant calling pipeline

CNV Calling for Exomes Whitepaper

Review covering the development, validation and analytical performance of a new copy-number variant (CNV) Calling module released in Congenica

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