ACMG Guidelines Implemented
The ACMG/AMP joint guidelines for variant interpretation provide a set of criteria to score variants and place them into one of five classification tiers. Following the guidelines requires deep diving into the annotations, genomic context and existing clinical assertions about every variant. VSClinical provides a tailored workflow to score each relevant criterion while also providing all the bioinformatic, literature and evidence from clinical knowledgebases to assist in the scoring and interpretation process.
VSClinical is designed to allow variant scientists to efficiently process variants. It focuses on the optimal organization and presentation of the ACMG guidelines criteria as questions with supporting evidence and suggested answers. Previous classifications are automatically brought in, focusing effort on the set of novel variants that need to be scored for the first time. Most novel variants will be classified as benign or likely benign, and VSClinical is organized to quickly identify and classify these variants.
The work done in your lab to classify variants will be automatically included in future analyses. As the number of samples processed increases, the number of variants requiring classification will be reduced as well as sample turn-around time. Previously classified variants will be marked with their last evaluation date, allowing them to be accepted in the context of the current sample without extra analysis time. If some critical external data surrounding that variant has changed since it was last evaluated, a flag will be raised to re-evaluate it in the updated context.
While a final classification of a variant requires the manual inspection of the sample’s clinical details, published literature and the content of existing related clinical interpretations, many attributes of a variant and criteria from the ACMG guidelines can be auto-computed with bioinformatic algorithms and specially curated annotation sources. The ACMG auto-classifier algorithm can reduce the complexity of your annotation and filtering process, helping remove benign variants while highlighting potential pathogenic variants.
Standardize Lab Workflow
Any complex process leaves a lot of room for variation of execution by different lab personnel. VSClinical provides a guided workflow that reduces the amount of subjectivity to the variant classification and interpretation process. Standardized questions, automatically computed evidence, and historical context provides the framework for arriving at the final classification consistently and reproducibly.
Learn as You Go
New variant scientists will be able to start classifying variants with confidence using VSClinical’s integrated documentation and best practice excerpts. The guided workflow includes contextual explanations and descriptions of the specialized data sources and evidence brought in to answer scoring questions. We have carefully curated the published literature on ACMG guideline best practices, adaptations and clarifications.
Recommended Learning Materials
We have a variety of materials for anyone interested in the industry or our software solutions. Here are some of our recommended materials for you to check out related to VSClinical!
Our newly released eBook "Clinical Variant Analysis" is a great way to learn about the ACMG Guidelines and how we are able to support this complex and tedious process with VSClinical.Download your free copy
Check out some of our previously recording webcasts featuring VSClinical in action!
Try VSClinical for Free
Did you know we offer complimentary trials of our software? No restricted features, no sample data - you get to try all the features of VSClinical with your data and see how it works!
If you are interested in a trial, please fill out the form below, and we will send you the details!
4 GB of RAM
100GB of space available for annotations and projects
If you are working with whole exomes or genomes, especially if or hundreds to thousands of samples, we suggest a high-memory configuration and plenty of storage capacity:
16GB+ of RAM (32GB for Servers)
8+ CPU Cores
1TB of space available for annotations and projects
The following operating systems are supported:
64-bit Windows 7 or later
Linux Ubuntu 14.04 or later (64-bit only)
Linux RHEL 7 or later, or equivalently CentOS 7 or later (64-bit only)
Mac OS X 10.10 or later
Golden Helix VarSeq and SVS can be configured to access the internet through a SOCKS5 or HTTP/HTTPS Tunneling Proxy. Go to Tools -> Proxy Settings… to configure.
The software only needs to make outgoing connections on standard HTTP/HTTPS ports and protocols. If a local firewall is installed that prevents these types of outgoing connections (this is very uncommon), firewall rules will need to be created to whitelist the software.
Note we have run into numerous issues where aggressive anti-virus programs prevent the product from performing normal operations such as opening files and logging in. You may need to whitelist Golden Helix executables or disable these tools to perform your analytics.