As reported byÂ GenomewebÂ andÂ ClinicalOMICs, powerful new curated data has been integrated into our Congenica platform along with enhancements to our secondary analysis pipelines, enabling the analysis and interpretation of genomic data to be performed faster and with greater precision than ever before.
The latest version of Congenica (v2.2) enables you to:
- Achieve 10X faster genomic data processing speeds
- Instantly access genetic evidence associated with patient variants
- Minimize the risk of disease-relevant variants going undetected
Here we summarise some of our latest enhancements to the Congenica platform.Â If you have any questions or would like further information, pleaseÂ get in touch with us.
Achieve 10X faster processing speeds
Congenica software integrates a suite of secondary analysis pipelines into a single solution. Our all-in-one solution provides you with scalable alignment and variant detection of diverse variant types (SNVs, Indels and CNVs).
Our pipeline options now include Sentieon for FASTQ and BAM files, available with variant calling which is consistent with GATK results and up to 10X faster processing speeds.
The integration of Sentieon into Congenica provides you with faster processing speeds and accelerated variant calling and alignment in GRCh37 and GRCh38 instances, without sacrificing accuracy in the analysis and interpretation of whole genome, exome, and gene panel data.
Minimize the risk of disease-relevant variants going undetected
Congenica has built on its extensive reference data sources with the inclusion of Decipher CNV (Copy Number Variant) Knowledgebase.
DECIPHER is an interactive, web-based platform providing you with contextualised and phenotypic information on pseudonymized, plausibly disease-causing variants from over 33,000 rare disease patients.
Integration of DECIPHER complements Congenicaâ€™s already comprehensive offering of curated variants and will greatly aid the identification of diagnostic variants in patients with rare disorders.
Instantly access genetic evidence associated with patient variants
Mastermind contains the largest most up-to-date collection of genomic literature. Our addition of Mastermind enables you to instantly access the genetic evidence associated with patient variants. This significantly shortens the search time required to clinically interpret a variant and support its pathogenicity.
See how you could use Congenica to increase your diagnostic yield, confidence and workflow efficiency and optimize the analysis and interpretation of complex genomic data.