Tesio N

ORCID: 0000-0002-5359-1292 · 2 papers in corpus

observational 2024

Rare copy-number variants as modulators of common disease susceptibility

Genome medicine ·doi:10.1186/s13073-023-01265-5

BACKGROUND: Copy-number variations (CNVs) have been associated with rare and debilitating genomic disorders (GDs) but their impact on health later in life in the general population remains poorly described. METHODS: Assessing four modes of…

observational 2023

Copy-number variants as modulators of common disease susceptibility

·doi:10.1101/2023.07.31.23293408

ABSTRACT Background Copy-number variations (CNVs) have been associated with rare and debilitating genomic syndromes but their impact on health later in life in the general population remains poorly described. Methods Assessing four modes of…