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.
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.
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.
Bionano whole genome imaging is the only technology that allows for the highly sensitive detection of all structural variant types present at low allele fraction in heterogenous cancer samples, in an unbiased genome-wide manner. By providing a complete and unambiguous picture of the cancer genome structure, it can identify prognostic markers not currently monitored, and enable a complete characterization of the cancer genome in single test, potentially replacing multiple cytogenetic tests that make up the gold standard.
This white paper explains how Bionano whole genome imaging can make any sequence assembly up to 100 times more contiguous by scaffolding sequence contigs, and more exact by correcting errors. The new two-enzyme hybrid scaffold pipeline introduced here improves both aspects. It creates functional genomes at a low cost, no matter what your sequencing strategy is.
This Case Study demonstrates the power of combining 2 single molecule technologies to produce Gold-quality genomes. Those allow the discovery of substantial amount of structural variation unique to individuals and populations otherwise not accessed by other short-read technologies.
This Case Study highlights Scientists at the USDA and Cold Spring Harbor Laboratory who know that better breeding of maize to feed a growing population will depend on an accurate reference assembly. They tackled the previously intractable crop with a combination of PacBio® Sequencing and BioNano Genomics®genome maps, leading to the first-ever high-quality reference assembly.
Scientists at Rutgers University, Washington University, and Ibis Biosciences successfully deployed Next-Generation Mapping (NGM) technology from Bionano Genomics to help produce the first complete assembly for a fast-growing aquatic plant with biofuel potential. What emerged is a clear view into a genome undergoing drastic reduction and a tool to elucidate chromosome-scale dynamics.