Breakthrough Genomics' software integrates all the useful information about each variant (e.g. population frequency, ClinVar classification, and coverage depth) and presents them in a simple yet clear way. I really appreciate all the tools available to filter variants (e.g. ontology, HPO phenotype terms, coverage depth, variant frequency, etc.). The software presents clinically important variants prominently as well allowing user to check gene function/health conditions with a simple click. It is also really wonderful that ACMG criteria have been integrated in the variant classification of this software. Overall, it is an amazing software.

I think Breakthrough Genomics is a pioneer in streamlining the process of variant interpretation and clinical diagnosis.  The company's founders have years of hands-on experience doing clinical interpretation of whole exome and whole genome data and they built a tool that really meets the needs of clinical labs.

All the tools and information needed to meet current CAP and CLIA requirements were quickly available.  All the evidence needed to reach the correct diagnosis is easy to see and ENLITER gave me real-time updates on the latest findings without having to leave the platform, which is a real time saver.  I really found the Free-Text Phenotype Filter to be a great way to quickly zoom in on the most-important variants.  I was also able to customize and save my filters, analyses, and variant classifications whenever I needed to.  Overall, it's a powerful tool that no lab should be without.

Software developed by Breakthrough Genomics is intuitive, comprehensive and informative.   It will process raw fastq files yielding output that contains both quality control metrics as well as the variants identified.  The convenient and versatile filtering features permit the user to easily customize their variant analysis.  The wealth of information (e.g. viewing of the supporting reads in IGV, ACMG evidence, or clinical information) placed at one’s fingertips regarding each variant is extremely helpful for rapid variant assessment.  Overall it is an extremely useful tool to make variant analysis efficient.

Breakthrough Genomics provides a world-leading platform for the interpretation of large-scale genomic sequencing data in clinical and research labs.   Genomic variants are linked with accurately curated and frequently updated information. The powerful filtering function enables rapid identification of disease genes corresponding to the phenotypes. The group and cohort analysis are very useful for clincial diagnosis and also valuable for research. It is a great tool facilitating clinicians and researchers to analyze genomic data without the help of bioinformaticians.

Enliter delivers high quality results for the interpretation of genomic sequencing data. It makes the intimidating task of analyzing and interpreting large volumes of data manageable, quick, and user friendly. Enliter simplifies variant filtering and helps narrow down relevant calls while annotating and listing comprehensive information from a broad range of reputable sources. Along with the extensive filters and efficient categorization of all variants, Enliter also has a variant reporting tool that makes it easy to generate customized reports for review. It is the go to one stop tool that has made variant interpretation and report generation more efficient and and accessible for all users in our laboratory.