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Publications

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

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.

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%

Epilepsy, the unmet needs

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

ExomeCG simplifies cytogenomic data generation and interpretation

Capture kit designed by Congenica enables whole exome sequencing and targeted copy number analysis in a single assay

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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