Customer Publications Throughout Summer 2019

         August 26, 2019

We are always excited to see how our software is used to support research and enable precision medicine. We believe that our customer’s success is ultimately our success! This summer was filled with many wonderful publications from across the globe and we are proud to have been a part of them. Here are just a few from each month:


A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly

A team of researchers from Denmark utilized VarSeq in their trio-based whole-exome approach to identify a novel missense variant causative of the symptoms seen in two unrelated children exhibiting intellectual disability, developmental delay, ADHD like behavior and limited speech and cardiac abnormalities. This study builds upon the recent discovery of NAA10 germline variants found in patients with the X-linked lethal Ogden Syndrome and other cases displaying variable degrees of similar symptoms found in the two test subjects of this study. The team’s work may lead the way to identifying the specific N-terminal acetyltransferase suspected in playing a critical role in nervous system development.

Pernille Tørring & Colleagues, Odense University Hospital / Published in BMC Medical Genetics

Complete Tracheal Ring Deformity: A Translational Genomics Approach to Pathogenesis

Researchers from Cincinnati Children’s Hospital employed SVS to identify variants in probands by filtering and annotating their whole exome sequencing data and using Trio analysis techniques to identify whether mutations were inherited or de novo in genes responsible for normal tracheal development. Complete Tracheal Ring Deformity (CTRD) is a rare congenital abnormality causing tracheal stenosis in children. Results of the analysis demonstrated that the absence of the trachealis muscle is associated with CTRD and the team was able to compare the effect of the identified variants from their subjects with targeted deletions important to tracheal development in a murine model.

Ken Kaufman & Colleagues, Cincinnati Children’s Hospital Medical Center / Published in the American Journal of Respiratory and Critical Care Medicine


Bioinformatic detection of copy number variation in HNF4A causing maturity onset diabetes of the young

A Canadian team used VarSeq’s CNV tool to detect the presence of CNV’s during the re-analysis of data collected 13 years prior in a patient presenting with maturity onset diabetes in the young (MODY) at the then age of 16 years old. The whole-gene deletion was not previously detected since NGS techniques at that time were unable to detect CNVs. The findings of this study support the incorporation of CNV analysis during genetic testing for MODY. Researchers hope this discovery will help establish the true prevalence of CNVs as a cause for this under-recognized condition.

John Robinson & Colleagues, Robarts Research Institute / Published in Clinical Genetics

Iranome: A catalogue of genomic variations in the Iranian population

International collaborators from multiple institutions in Canada, Germany, and Iran strove to advance precision medicine for underrepresented Middle Eastern populations. With the help of SVS and the team at Golden Helix, whole exome data from 800 individuals representing the eight major ethnic groups in and around Iran were analyzed and used to create a database of variants not currently represented in the commonly used genetic databases publicly available. These findings will undoubtedly aid in improving molecular diagnosis capabilities for ethnic populations originating in the regions historically known as Greater Iran or Persia.

Mohammad Akbari & Colleagues, University of Toronto / Published in Human Mutation – Variation, Informatics and Disease


Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

Researchers from Denmark, Sweden and China teamed up to show the importance of copy number variation analysis in diagnosing inherited retinal diseases (IRD) with the assistance of the VarSeq CNV calling tool. Targeted NGS panels were evaluated for deletion and duplication events using the CNV tool to support the inclusion of copy number variation analysis to improve genetic counseling for families that may be affected by IRD and for identifying patients already affected that may benefit from new candidate treatment options.

Cathrine Jespersgaard, Lisbeth Birk Møller & Colleagues, University of Copenhagen / Published in Nature

Genomic approaches to identify hybrids and estimate admixture times in European wildcat populations

To aid in conservation efforts of the European wildcat (Felis silvestris silvestris), researchers from several European countries and the US employed SVS while seeking patterns of genetic differentiation among DNA samples taken from wildcats, domestic cats and cats suspected to be of hybrid origin. The team explored the introgressive hybridization of wild cats with free-ranging domestic cats, which is major threats to the survival of the European wildcat. SVS helped them to identify admixture events over several generations of wildcats that will aid in conservation plans aimed at preserving these small, but mighty felines.

Romolo Caniglia, Institute for Environmental Protection and Research (Italy), Leslie Lyons, University of Missouri (USA) & Colleagues / Published in Scientific Reports

To find the complete list of publications citing Golden Helix products, please visit our Published Articles page on our website.

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