Human pangenomics: promises and challenges of a distributed genomic reference
A pangenome is a collection of the common and unique genomes that are present in a given
species. It combines the genetic information of all the genomes sampled, resulting in a large …
species. It combines the genetic information of all the genomes sampled, resulting in a large …
A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features
FN Riviello, A Daponte, E Ponzi, R Ficarella, P Orsini… - Genes, 2023 - mdpi.com
Large-scale genomic structural variations can have significant clinical implications,
depending on the specific altered genomic region. Briefly, 2q37 microdeletion syndrome is a …
depending on the specific altered genomic region. Briefly, 2q37 microdeletion syndrome is a …