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Hematological Neoplasm Cytogenetics Profiled With Optical Genome Mapping

For a paper appearing in the Journal of Molecular Diagnostics, researchers at Augusta University, Emory University, and Bionano Genomics assess optical mapping as an approach to provide cytogenetic profiling in hematological neoplasms such as acute myeloid leukemia, chronic lymphocytic leukemia, chronic myeloid leukemia, myelodysplastic syndromes or myeloproliferative disorders/neoplasms, plasma cell myeloma, or lymphoma. Based on 92 optical genome mapping runs representing 59 retrospectively analyzed hematological neoplasms and 10 cancer-free control samples, the team found that the strategy had high specificity, accuracy, and sensitivity compared to conventional cytogenetics methods such as karyotyping, fluorescence in situ hybridization, and chromosomal microarrays, suggesting the approach may be beneficial in the clinic. "The cytogenetic analysis of hematological neoplasms is of critical importance for accurate diagnosis, classification, prognostication, therapy selection, and disease monitoring," the authors write, noting that "there has been a significant interest to validate [optical genome mapping] technology, as it detects all classes of [structural variants] in a single assay.

The Scan

Machine Learning Helps ID Molecular Mechanisms of Pancreatic Islet Beta Cell Subtypes in Type 2 Diabetes

The approach helps overcome limitations of previous studies that had investigated the molecular mechanisms of pancreatic islet beta cells, the authors write in their Nature Genetics paper.

Culture-Based Methods, Shotgun Sequencing Reveal Transmission of Bifidobacterium Strains From Mothers to Infants

In a Nature Communications study, culture-based approaches along with shotgun sequencing give a better picture of the microbial strains transmitted from mothers to infants.

Microbial Communities Can Help Trees Adapt to Changing Climates

Tree seedlings that were inoculated with microbes from dry, warm, or cold sites could better survive drought, heat, and cold stress, according to a study in Science.

A Combination of Genetics and Environment Causes Cleft Lip

In a study published in Nature Communications, researchers investigate what combination of genetic and environmental factors come into play to cause cleft lip/palate.