Accelerate to discover

Back to filter

Related topics

Imaging Performance of a multimodal module to enhance preclinical irradiator capabilities

Precision X-Ray

Sep 15, 2020

Upgrading an existing irradiator with such a multi-modal imaging device is a reasonable investment in laboratories...

Are you still using traditional methodologies for your Oncology cell metabolism studies?

Sartorius

Sep 10, 2020

In this infographic, learn about the challenges experienced by scientists in analysing cellular metabolism and how...

Using DNA repair and machine learning to improve cancer risk prediction

Luminex

Sep 7, 2020

Across the world, breast cancer continues to be the leading type of cancer in women, accounting for 25% of all cases....

Quantitative evaluation of pulmonary function with hyperpolarized xenon gas MR

Bruker Biospin

Aug 20, 2020

Hyperpolarized 129Xe MR has been proven to be a powerful tool to evaluate the pulmonary function and has been widely...

Sep 19, 2020

Applications of Hyperpolarized 129Xe MRI for functional imaging of the lungs

Bruker Biospin

Aug 11, 2020

2015 marked the first ever translation of hyperpolarized gas MRI to diagnostic clinical practice. Research at the...

Detection of Rare Cells and Circulating Tumor Cells using NovoCyte flow cytometer

Acea Biosciences

Aug 11, 2020

Circulating tumor cells (CTC) are rare cells shed from a solid tumor or metastases that circulate through the...

Introducing Amnis AI Image Analysis software

Luminex

Aug 4, 2020

Amnis AI Image Analysis Software combines the power of high dimensional data reduction with artificial intelligence,...

Sep 19, 2020

Micro-CT: Fancy gadget or indispensable technology towards quantification of lung diseases?

Bruker Biospin

Jul 29, 2020

Technology allowing evaluation of live animals repeatedly is indispensable to gain better insight into the dynamics of...

Show all topics (10)

Genome-wide structural variation detection by genome mapping on nanochannel arrays

Jun 14, 2016

„Comprehensive whole genome structural variation detection is challenging with current approaches. With diploid cells as DNA source and the presence of numerous repetitive elements, short read DNA sequencing cannot be used to detect structural variation efficiently. In this report, we show that genome mapping with long, fluorescently labeled DNA molecules imaged on nanochannel arrays can be used for whole genome structural variation detection without sequencing. While whole genome haplotyping is not achieved, local phasing (across >150 kb regions) is routine, as molecules from the parental chromosomes are examined separately. In one experiment, we generated genome maps from a trio from the 1000 Genomes Project, compared the maps against that derived from the reference human genome, and identified structural variation that are >5 kb in size. We find that these individuals have many more structural variants than those published, including some with the potential of disrupting gene function or regulation.“ Mak et al. (2015): Genome-Wide Structural Variation Detection by Genome Mapping on Nanochannel Arrays. In Genetics. 2015

Read more

Scientific paper
Application

Related technologies: Genome mapping

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

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