Cytogenetics

A multi-dimensional framework for establishing and managing a genomic newborn screening program

by

The above-described methodology resulted in a multi-dimensional framework for a gNBS program consisting of 18 screening criteria (Table 1) assigned to two overarching categories and four subcategories: (A) Criteria that enable transparent disease selection: I. Four clinical criteria, II. Four diagnostic criteria, and III. Three therapeutic-interventional criteria … Source link

ChromTR revolutionizes chromosome detection in metaphase cell images

by

ChromTR, a cutting-edge framework for chromosome detection in metaphase cell images, represents a significant advancement in the field of cytogenetics. This framework, which integrates semantic feature learning and chromosome class distribution learning, is designed to automate the detection and classification of 24 types of chromosomes in raw metaphase cell images. This is particularly important for … Read more