Author Archives: Rana Smalling

About Rana Smalling

Rana Smalling, PhD joined our team as a Field Application Scientist in September of 2021. Rana is a Jamaican native who is passionate about using biomedical research and science communication to bring about better healthcare solutions. She earned a Bachelor’s degree in Biological Sciences from the University of Chicago, a PhD in Biochemistry from the University of Utah and completed postdoctoral research at Vanderbilt University Medical Center. She has used both lab bench and bioinformatics approaches to identify novel regulators and potential biomarkers in cancer and metabolic diseases. Rana enjoys providing support and training to Golden Helix customers. When she is not working, she likes to learn about the medicinal uses of plants, fungi and microbes, and she enjoys road trips, singing and listening to music.

Integrating Custom Gene Panels for Variant Annotations Q&A Follow Up

         February 16, 2022
Integrating Custom Gene Panels for Variant Annotations

Thanks to all those who attended the recent webcast by Dr. Rana Smalling, “Integrating Custom Gene Panels for Variant Annotations”. If you were unable to attend or would like to recap, here is a link to watch the broadcast. We covered a lot of content regarding virtual gene panels, and there were several questions submitted during our Q&A session that… Read more »

How to Create Your Own CNV Frequency Catalog

         January 20, 2022
cnv frequency catalog

Global population frequency catalogs like 1kG Phase 3, gnomAD, DGV, and others are excellent resources for identifying rare variants in your copy number variant (CNV) analysis. However, they are not exhaustive, and the reality is a lot of variants that are missing from global population frequency catalogs are still common variants. At the same time, CNVs that are identified by… Read more »

Highlights from Advanced Report Customization in VSClinical Webcast: Somatic Reports

         January 6, 2022
advanced somatic report customization in vsclinical

In our previous blog, we covered the highlights of our Advanced Report Customization in VSClinical webcast in the context of germline clinical reports. Now, we bring you the next of the series: somatic clinical reports. In the recent webcast, Advanced Report Customization, we covered a range of somatic-focused clinical reports, demonstrating how easy it is to create AMP guideline-based clinical… Read more »

Breaking Down ACMG CNV Guidelines in VSClinical

         November 25, 2021

In February 2020, the American College of Medical Genetics (ACMG) and the Clinical Genome Resource (ClinGen) published a joint consensus on standards for the interpretation and reporting of copy number variants (CNVs) ranging from large CNVs spanning multiple genes to small intragenic events1. The guidelines consist of over 80 different criteria which are arranged into five distinct sections. These extensive… Read more »