Bionano Genomics, Inc. (Nasdaq: BNGO) today announced that studies featuring optical genome mapping (OGM) at the 2026 European Society of Human Genetics (ESHG) ...
Bionano Genomics, Inc. (Nasdaq: BNGO) today announced that studies featuring optical genome mapping (OGM) at the 2026 European Society of Human Genetics (ESHG) conference grew substantially compared ...
Background The 15q11.2 deletion is frequently identified in the neurodevelopmental clinic. Case–control studies have associated the 15q11.2 deletion with neurodevelopmental disorders, and clinical ...
Background 17q12 microdeletion and microduplication syndromes present as overlapping, multisystem disorders. We assessed the disease phenotypes of individuals with 17q12 CNV in a population-based ...
A school project prompted 17-year-old Edward Kang to develop an AI tool that may lead to earlier diagnoses of the disorders.
A newly developed open-source tool designed for rigorous reanalysis of genomic data is highly effective at detecting new rare disease diagnoses. The tool's ability to frequently and automatically ...
The proposed OMB changes to research funding threaten US science. Researchers must stand up for and share the value of science to society.
Second, we wanted to test whether the observed phenotype is independent of the laboratory of analysis (i.e., whether it is sufficiently robust to be replicated at multiple sites) (Fig. 1 A). This goal ...
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