Topic: Sequence Variants

Heritable retinal dystrophies - trio analysis in NxClinical

A recent NxClinical case study features familial and trio analysis of a patient population in Costa Rica. Dr. Daynna Wolff, Director, Clinical Cytogenetics and Genomics, Medical University of South Carolina used NxClinical for integrative analysis of copy number, sequence variants, and autozygosity mapping to study 31 affected children from 23 Costa Rican families.

Chatting with Dr. Ingrid Simonic about Consolidation of Multiple Testing Strategies

Recently we spoke with Dr. Ingrid Simonic, Deputy Director, Medical Genetics Laboratories, Cambridge University Hospitals, about the current stage of testing strategies, in particular the workflow at her hospital. She discussed how they perform many tests at the hospital and not necessarily because there are that many patients but that several tests are performed per patient.

Looking back at ACMG 2018

The Annual Clinical Genetics Meeting (ACMG) is soon, we wanted to make sure you didn't miss out on the action down in Charlotte, North Carolina! Visit booth #806 or our exhibit theater with Dr. Sarah Murray, UCSD to learn more about CNV, AOH and Sequence Variants Detected from a Single NGS Assay.

ACMG 2018 in Charlotte is Right Around the Corner! 

The Annual Clinical Genetics Meeting (ACMG) is soon, we wanted to make sure you didn't miss out on the action down in Charlotte, North Carolina! Visit booth #806 or our exhibit theater with Dr. Sarah Murray, UCSD to learn more about CNV, AOH and Sequence Variants Detected from a Single NGS Assay.

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

A recent Science article, "Phenotype risk scores identify patients with unrecognized Mendelian disease patterns", from Vanderbilt University Medical Center leverages the phenotypic patterns of Mendelian diseases to detect rare-variant associations and finds that most of the individuals with statistically significant variants were undiagnosed with the target Mendelian disease.

Does reanalysis improve diagnostic yield?

A recent paper on the project shared results from a reanalysis in 2017 of the initial 1133 children using new knowledge and findings that have accumulated since the initial analysis. The pace at which improvements in genomic data technologies, analysis, and knowledge are moving, the group hypothesized that it is likely that diagnostic yield would increase via the reanalysis. They sought to determine how much of an improvement can be made over time.

ASHG workshop videos

We had a great workshop at ASHG a few months ago. If you were not at the meeting or missed our workshop, you can still view our guest presenters' talks. We launched NxClinical 4.0 at the conference and prior to that we had some customers who got the chance to use it via our Early Access Program. A few of those users share their experiences in using NxClinical 4.0 specifically in the area of combining analysis and interpretation of CNV, SNV, and allelic events within a single software framework where copy number is derived from NGS data.

Recent advances in research: rare variant linked to common cold susceptibility

A recent article published in The Journal of Experimental Medicine has identified a rare sequence variant that results in susceptibility to the common cold. A child with recurrent respiratory tract infections was subjected to whole-exome sequencing of her genome along with sequencing analysis of viral samples she was infected with.

Looking Back at ACMG 2017

Annual Clinical Genetics Meeting in sunny Phoenix, AZ was a success - read more about it in our blog!

Nexus Copy Number 9.0 is here

Nexus Copy Number 9.0 is coming this month! It contains a new method that is called BAM (multiscale reference). It derives copy number results from whole genome sequencing (WGS), whole exome sequencing (WES), and targeted panel sequencing data.