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