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Displaying page 75 of 125 with a total of 1246 results.
white papers

Highly Sensitive Structural Variant Detection for Medical Genetics: A Comparison to the Standard of Care

This white paper is based on a webinar presentation by Alexander Hoischen of Radboud University Medical Center, in which he discussed the promise of genome imaging technology for medical genetics.

Dr. Hoischen shared details of a proof-of-concept study his lab is conducting to evaluate the Saphyr whole genome imaging technology from Bionano Genomics as a possible replacement for karyotyping, fluorescent in situ hybridization, and copy number variant microarrays.

white papers

Bionano Genome Imaging Identifies Large Structural Variants in Genetic Disorders

This White Paper explains how NGS leaves half of patients with genetic disorders without a molecular diagnosis, because it fails to adequately analyze repetitive parts of the genome and large structural variation. Bionano Genome Imaging is able to detect all SV types with high sensitivity and specificity, and examples of cancer and genetic disease are shown.


Highly Sensitive Structural Variant Detection for Medical Genetics: A Comparison to Standard of Care

This webinar outlines how a team at Radboud University Medical Center is assessing ultra-long read optical mapping on the Bionano Saphyr System to replace classical...
white papers

The ‘Dark Matter’ of Cancer Genomics: Revealing Undetected Structural Variations in Leukemia

This white paper is based on a webinar presentation by Dr. James Broach of the Penn State College of Medicine. He discussed methods for capturing a comprehensive snapshot of all variants—both point mutations and structural variants—present in a tumor sample in order to gain insights about the genetic and genomic basis of individual cancers.

in the media

Scientists Use Advanced Imaging to Map Uncharted Area of Genome

CU Anschutz Medical Campus
September 18, 2019
in the media

Researchers Map Uncharted Area of Genome Using Advanced Imaging

September 4, 2019
in the media

Genomic Gaps Wide for Some, Narrow for Others, New Maps Show

Genetic Engineering & Biotechnology News
September 4, 2019


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