Article

Generating Advancements in Longitudinal Analysis in X and Y Variations: Rationale, Design, and Methods for the GALAXY Registry

2024-08-14

Abstract excerpt

<h4>ABSTRACT</h4> Sex chromosome aneuploidies (SCAs) are a family of genetic disorders that result from an atypical number of X and/or Y chromosomes. SCAs are the most common chromosomal abnormality, affecting ∼1/400 live births, yet are often underdiagnosed, leading to over-representation of more severely impacted individuals in many clinical studies. In addition to this ascertainment bias, existing work in SCAs...

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Literature Corpus work: 4fe05920-8f0e-5250-9e97-9c600caa42d2
DOI: 10.1101/2024.08.14.24311888

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