Topic: Nxclinical

Lucky No. 14: ACMG adds new genes for reporting secondary findings

The American College of Medical Genetics and Genomics Secondary Findings Working Group has recently updated its recommendations.

Introducing NxClinical 6.0 — 5 key updates and improvements

The long-awaited NxClinical update is here! NxClinical 6.0 is packed with over 500 features and improvements - too many to talk about here but this blog features some of the highlights.

Publication notes superiority of NxClinical software for CNV detection from low pass sequencing

Low Pass Genome Sequencing (LP-GS) for detection of CNVs as a replacement to constitutional microarray analysis. The team evaluated a number of different tools and found NxClinical to have superiority in CNV detection and classification.

Promising results for a new non-invasive prenatal test that uses single circulating trophoblasts

A recent study from Arthur Beaudet’s lab at Baylor College of Medicine published in the American Journal of Human Genetics (AJHG) looks at the ability to detect fetal aneuploidies and copy number variants (CNVs) at 1Mb resolution from single circulating trophoblast (SCT) cells in maternal blood.

Aberrant Cell Fraction Estimation in NxClinical 5.0

NxClinical has very strong visualization tools which is important for cytogeneticists - a reviewer can easily view the allele patterns and estimate % aberrant cells. But NxClinical 5.0 makes this even easier by automatically performing this calculation on a per event basis. The software also uses a user-defined threshold to mark events as mosaic or not. The software looks at event-specific aberrant cell fraction using both the Log R value as well as BAF (where available). This approach uses platform-dependent scaling so that the correct calculation can be applied to samples from multiple platforms (e.g. ThermoFisher, Illumina, CNV from NGS).

Copy Number and Loss of Heterozygosity Analysis in Tumors

The 2019 Tumor Profiling: Methods and Protocols book is out and we are particularly excited about the Whole-Genome Single Nucleotide Polymorphism Microarray for Copy Number and Loss of Heterozygosity Analysis chapter! Read more.

Dazed by the same routine? Discover a Novel Integrated Approach to Clinical Genomic Analysis

NxClinical provides a novel, integrated approach to clinical genome analysis and interpretation.

Clinical Genome Data Analysis Workshop in China

To educate the community and encourage sharing of experiences and knowledge within the genetic testing labs, Be Creative recently hosted a workshop on clinical data analysis and interpretation using NxClinical.

OMIM data in NxClinical

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database consisting of human genes and genetic phenotypes associated with Mendelian disorders. The database is used by genetic labs to assist in interpretation. It is maintained by Johns Hopkins University and is available freely via the online GUI for personal, educational, or research use but other uses, usage by certain types of organizations, as well as downloading or incorporating with products does carry licensing fees.

NxClinical February track updates

Post ExcerptThis week many new tracks were added to the NxClinical track auto-update system. Below is a detailed description of what was added. CIViC – CIViC is an open access, open source, community-driven web resource for Clinical Interpretation of Variants in Cancer.