HomeVariant Analysis

Variant Analysis

Zebrafish modeling for the clinic: Rapid in vivo functional testing of patient variants for clinical applications.

We use the zebrafish (Danio rerio) as an in vivo model to measure the functional effects of patient-derived genetic variation.  In this way, human genetic variants identified in the clinic are quantitatively and qualitatively connected to model animal phenotypes.  As a proof of concept study, we used precision gene editing and transient knockdown approaches targeting stxbp1a – the …

Zebrafish modeling for the clinic: Rapid in vivo functional testing of patient variants for clinical applications. Read More »

The Unnecessary Procedure – A Problem with False Positives in Genomic Testing

There is a significant pressure to increase diagnostic yield and it has its consequences. BRCA testing is probably the most developed ecosystem for genetic tests but controversy remains about what medical procedures are best recommended for the patient. High profile cases such as Angelina Jolie’s decision to undergo a bilateral mastectomy and the implication of …

The Unnecessary Procedure – A Problem with False Positives in Genomic Testing Read More »

Systems for Improving Diagnostic Yield of Genomic Sequence Analysis

How to better understanding Variants of Uncertain Significance in epilepsy and help find new therapeutic approaches Did you know that 1 in 26 people will experience epilepsy at some point in their lifetime? This statistic is very high, and therefore it is likely many of you have experienced epilepsy or know someone who has. My …

Systems for Improving Diagnostic Yield of Genomic Sequence Analysis Read More »

Explosive Growth of Gene Variant Numbers

Genetic Testing Clinical geneticists have an acute need to understand pathogenicity in genomes of their patients (Figure 1). Cost per human genome has now approached $1000 each (Wetterstrand 2018). This affordable cost is allowing clinicians to start incorporating next-generation sequencing (NGS) technology into the patient diagnosis. Variant Diversity The American College of Medical Genetics and …

Explosive Growth of Gene Variant Numbers Read More »

Worming into Relevance – Human disease models in the C. elegans nematode

The philosopher Friedrich Nietzsche once said: “You have evolved from worm to man, but much within you is still worm.” Genetic diversity in individuals and between species is responsible for bewildering variability and biological niche adaptation of life, yet much of the essential genes involved in disease presentation are highly conserved from yeast to humans. …

Worming into Relevance – Human disease models in the C. elegans nematode Read More »

C. elegans as Fast and Affordable System for Variant Phenotyping

Systems for Functional Studies A variety of modeling systems can be used to explore variant function. Initially, many researchers turn to a computational approach to aid variant assessments (Eilbeck 2017). A recent bioinformatics study was used to refine the variant classification of voltage-gated sodium channels (KCNQs) for their contributions to epilepsy (Hol 2017). Yet many …

C. elegans as Fast and Affordable System for Variant Phenotyping Read More »

Functional analysis of variants to aid understanding of children’s epilepsy

Performing sequence analysis on a patient with a suspected genetic disease is becoming a standard of care. However, when a genetic variation is identified as pathogenic in a disease state, clinicians and patients are faced with making difficult care decisions. NemaMetrix has developed a platform that allows us to undertake functional analysis of variants to …

Functional analysis of variants to aid understanding of children’s epilepsy Read More »

Scroll to Top