Accelerate to discover

Back to filter

Related topics

IncuCyte webinar recording: Human Neurons in vitro, next-gen models for neurological disease

Sartorius

Apr 23, 2019

The ability to generate and manipulate human neurons in vitro is an exciting advance that enables the validation,...

Synthesis and characterization of functional nanofilm-coated live Immune cells using CQ1

Yokogawa

Apr 10, 2019

Layer-by-layer assembly techniques have been extensively studied in cell biology because of their simplicity of...

Product update: The high pass plus cassette

Sage Science

Apr 9, 2019

The high pass plus gel cassette is the newest addition to the Pippin family. It is dedicated to the BluePippin...

Comprehending diseased cardiac mechanics using speckle tracking echocardiography

VisualSonics FujiFilm

Apr 4, 2019

Are you working with high ultrasound imaging and are you interesting in speckle tracking echocardiography (STE)? Watch...

Apr 24, 2019

Novel imaging-based assay for hERG channel inhibition using iPS-derived Cardiomyocytes

Yokogawa

Apr 4, 2019

A large percentage of drugs fail in clinical studies due to cardiac toxicity, such as drug-induced QT...

Modified Beta-carotene-bound albumin nanoparticles for breast tumor ablation

Spectral Instruments Imaging

Mar 29, 2019

The albumin nanoparticles were fabricated using a beta-carotene cross-linker via the Nab technique. These new albumin...

Spectral flow cytometric analysis of loss-of-function mutations in granular cell tumors

Cytek Biosciences

Mar 29, 2019

Granular cell tumors (GCTs) are rare tumors that can arise in multiple anatomical locations,and are characterized by...

Apr 24, 2019

IncuCyte white paper: live-cell analysis for Neuroscientists

Sartorius

Mar 20, 2019

Stem cell technologies using iPSCs allow researchers to create differentiated neurons and support cells to study human...

Show all topics (10)

BioNano mapping outperforms existing clinical tests in Duchenne´s muscular dystrophy patients

Feb 15, 2018

In this study, Dr. Vilain’s team identified both single and multiple exon deletions up to 250 Kbp in size, a 13 Kbp duplication, and a 5.1 Mbp inversion all disrupting the dystrophin gene of study patients. Large structural variants of this size are typically detected with poor sensitivity using NGS or long-read sequencing. They also successfully identified the carrier status in mothers of the patients. The patient with the large inversion had been diagnosed with DMD through an invasive muscle biopsy, after chromosomal microarray, MLPA, PCR sequencing of all 79 exons, and exome sequencing all failed to detect the pathogenic inversion.

Read more

 

Scientific paper
Application

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