• Application

  • Implementation

Literature

  • white papers

    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

    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.

  • white papers

    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.

  • white papers

    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.

  • white papers

    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.

  • case studies

    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.