Accelerate to discover

Back to filter

Related topics

STAT Protein Phosphorylation in CD4+ T Cells using the CellStream flow cytometer

Luminex

Jan 21, 2021

Cytokine-induced protein phosphorylation is a key cell signaling event within the immune system that modulates diverse...

Introducing Cytek cFluor, 14 Colors Immunoprofiling Kit

Cytek Biosciences

Jan 19, 2021

Cytek cFluor Immunoprofiling Kit allows for the identification of helper T cells, cytotoxic T cells, B cells, NK cells...

A Glimpse on physiological monitoring for the in vivo SKYSCAN Systems

Bruker Biospin

Jan 14, 2021

This past year has proven once again that in vivo imaging is an important aspect in the microCT world. For longitudinal...

Cytek full Spectrum flow Cytometry webinar: Part II – panel design and troubleshooting

Cytek Biosciences

Jan 11, 2021

In this session, we will continue to look at full spectrum flow cytometry and look at considerations for fluorescence...

Jan 25, 2021

CQ1 webinar : optimizing high-content imaging of 3D models for drug discovery

Yokogawa

Jan 7, 2021

In vitro spheroid models are fast becoming the de facto standard for drug discovery applications, largely due to their...

IncuCyte for in-vitro analysis of SARS-CoV-2 vaccine candidate

Sartorius

Jan 4, 2021

Watch this video to learn how researcher at Humane Genomics are utilizing the Incucyte platform for the in-vitro...

High gain mode now available on the Amnis ImageStreamX Mk II

Luminex

Dec 31, 2020

Increase camera gain during data acquisition and dramatically increase photonic sensitivity with High Gain mode, a new...

Jan 25, 2021

Cesium-137 versus X-ray irradiation preconditioning in immunodeficient NOG mice

Precision X-Ray

Dec 28, 2020

Radio-active sources have been used routinely for the preconditioning in humanized mouse models, but safety issues have...

Show all topics (10)

Single-molecule optical mapping enables accurate molecular diagnosis of FSHD

May 3, 2018

One particular tandem repeat in the subtelomeric region of chromosome 4q can cause havoc when the number of repeat units drops. Contraction of a D4Z4 macrosatellite repeat in that region is associated with facioscapulohumeral muscular dystrophy or FSHD, one of the most common hereditary forms of muscle disease. Here, a novel approach for genetic diagnosis of FSHD was developed, by leveraging Bionano Saphyr single-molecule optical mapping platform and may be applied in clinical diagnostic settings once more validations are performed.

Scientific paper
Application
Product news

Related technologies: Genome mapping

Get more info

Regina Fillerová

Field application specialist

Regina

Fillerová

+420 731 127 718

Send Message

Brand profile

BioNano Genomics

A revolutionary NanoChannel technology for Genome mapping of extremely long DNA without amplification, providing long-range contiguity and eliminating PCR bias.

Related products

Genome maps of extremely long DNA without amplification, providing long-range contiguity and eliminating PCR bias

show detail

Saphyr provides rapid, high-throughput, long-range genome mapping with unmatched structural variation discovery capabilities

show detail

We supply and support Life-Science Technologies in the territory of Central and Eastern Europe.

Czech Republic

Slovakia

Hungary

Poland

Croatia

Slovenia

Serbia

Romania

Bulgaria

Latvia

Lithuania

Estonia

Russia

Ukraine

Belarus

Turkey