Episode 4

CentoCloud® – Innovative Bioinformatics

Next Generation Sequencing (NGS) has helped to revolutionize the diagnosis of rare genetic diseases – offering a fast, thorough, and cost-effective diagnostic tool for patients and physicians. Some challenges remain that limit further implementation of NGS in the clinical setting. One of these challenges is a cost-effective, end-to-end bioinformatics pipeline that can process the large volumes of data which are generated during sequencing.

With CentoCloud, this challenge is easily overcome.

Our cloud-computing infrastructure is designed for human genetic laboratories to support the execution of high-standard NGS diagnostics remotely – in a cost-effective, flexible, and rapid manner.

Listen to our Audio Guide for Episode 4 – Innovative Bioinformatics

The Highest Quality Bioinformatics & Variant Annotation

CentoCloud is powered by our validated, fully automated bioinformatic analysis and includes variant pre-classification based on ACMG guidelines. Additionally, AI-based genomic variant prioritization reduces the time and effort for variant interpretation and empowers you to provide your patients with accurate and timely answers.

The bioinformatics platform is also one of the world’s few CE-marked IVD software for genomic diagnostics that is available via the cloud.

CE-marked clinical decision support platform enables laboratories to provide best-in-class diagnostics of genetic diseases

State-of-the-Art Interpretation

The CE-marked CentoCloud platform and associated services from CENTOGENE facilitate the same high quality and diagnostic accuracy as we offer in our certified state-of-the-art labs. Thanks to the automated bioinformatics pipeline, you can accelerate diagnostic timelines, without compromising on quality:

Accepts raw sequencing data from Illumina sequencing technology in FASTQ format

Alignment to genomic reference sequence, variant calling, copy number analysis, and annotation with public databases and the CENTOGENE Biodatabank

Variant annotation, pre-classification based on ACMG guidelines and AI-based variant prioritization

How Does It Work?

Provide your NGS results, generated by Illumina technology, in the form of two FASTQ files per sample alongside patient (and family member) details and a comprehensive description of the index patient phenotype using human phenotype ontology (HPO) terms, via our online ordering portal CentoPortal®.

The CentoCloud bioinformatics pipeline performs rapid bioinformatic analysis of the data, including trimming of sample sequences, read alignment to the GRCh37 (hg19) human reference genome, de-duplicating the sequences, quality control, single nucleotide variants (SNV), and copy number variation (CNV) calling. Ultimately, the CentoCloud pipeline pre-classifies SNVs according to ACMG guidelines and ranks them according to their clinical relevance.

The results of the bioinformatic analysis are provided in the form of vcf and .bam files, an annotated variant file, quality metrics, and the result of a gender and kinship check in Excel format, as well as coverage metrics in .txt format.

CENTOGENE’s processes and IT system are certified by ISO 27001:2017 to ensure a high level of confidentiality,
integrity, and availability to all processed data. Together with our strong partners in operations, CENTOGENE
ensures this level of protection through all layers of data processing, including the usage of a security and data
privacy certified cloud, Amazon Web Services.

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CentoCloud – Our Fully Automated Bioinformatics Pipeline

With CentoCloud innovative bioinformatic analysis, we deliver you the highest quality bioinformatics, variant annotation, and reliable results for your patients. CentoCloud bioinformatics and medical evaluation options are available to you today – providing unparalleled decentralized diagnostic support. To find out more about how CentoCloud can help you provide the most advanced NGS diagnostics – no matter where you are located, please request a free demo.

Contact us today  Discover episode 1 Discover episode 2 Discover episode 3

CentoCloud® – Our New Bioinformatics SaaS Platform

Why Is It Essential to Combine Clinical and Genetic Data?

Episode 5: Biodatabank

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