Detecção e caracterização de variantes estruturais no genoma humano utilizando novas tecnologias

Version 1.0
Vieira, Társis Antonio Paiva, 2026, "Detecção e caracterização de variantes estruturais no genoma humano utilizando novas tecnologias", https://doi.org/10.25824/redu/6IDUWI, Repositório de Dados de Pesquisa da Unicamp , V1
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Description
This study contains data from chromosomal microarray analysis, whole genome sequencing, and optical genome mapping of 30 Brazilian individuals with intellectual disabilities, differences in sex development, or other rare diseases. Among the structural variants present in these individuals are balanced chromosomal rearrangements, complex chromosomal rearrangements, and ring chromosomes. The data cannot be made available due to intellectual property protection issues. For further information, please contact those responsible. (2025-12-01)
Subject Medicine, Health and Life Sciences
Keyword Structural variants, Ring chromosomes, Balanced chromosomal rearrangements, Complex chromosomal rearrangements, Optical genom mapping, Whole genome sequencing
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