Accelerate to discover

Back to filter

Related topics

Identify the quality of any protein in 3 minutes using microliters of sample with Tycho

NanoTemper

Jul 19, 2019

Tycho tells you so much about the quality of your protein. It tells you about presence, purity, concentration,...

Expanding patient tumor samples has never been so easy - Discover AVATAR

Xcell Biosciences

Jul 10, 2019

The AVATAR Cell Control System lets you fine-tune oxygen and pressure to cater culture conditions to your cell type of...

Take advantage of 4D mode

VisualSonics FujiFilm

Jul 4, 2019

Cutting edgce cardiovascular research demands cutting edge technology. 4D imaging brings together dynamic motion and 3D...

CQ1 confocal quantitative image cytometer: fighting colon cancer with killer cells

Yokogawa

Jul 2, 2019

Genetically modified immune cells can successfully destroy colon cancer cells. This has been demonstrated for the first...

Jul 19, 2019

Assessment of angiotensin II-induced mouse models of abdominal aortic aneurysm

VisualSonics FujiFilm

Jun 28, 2019

Are you working with high ultrasound imaging and are you interesting in progression/ regression of abdominal aortic...

Bionano introduce new SP blood and cell culture DNA isolation kit

BioNano Genomics

Jun 26, 2019

This Bionano prep SP blood and cell culture DNA isolation kit, can provide ultra-high molecular weight (UHMW) gDNA in...

Breast cancer‐derived exosomes reflect the cell of origin phenotype

IZON

Jun 24, 2019

The qNano Gold measures particles using the Tunable Resistive Pulse Sensing (TRPS) principle. TRPS is the most powerful...

Jul 19, 2019

Transcutaneous implantation of valproic acid-encapsulated

Spectral Instruments Imaging

Jun 21, 2019

The interest in alternative material systems and delivery methods for treatment of androgenetic alopecia has been...

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