Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes.

ABSTRACT:

Background

Previous genomic efforts on chromosome 9p deletion and duplication syndromes have utilized low-resolution strategies (i.e., karyotypes, chromosome microarrays). These studies have provided important initial insights into these syndromes. This current study is the first large-scale whole-genome sequencing (WGS) study of 100 individuals from families with chromosome 9p syndromes.

Methods

Through the newly formed 9P-ARCH (Advanced Research in Chromosomal Health: Genomic, Phenotypic, and Functional Aspects of 9p-Related syndromes) research network, we assembled a cohort of individuals from families with chromosome 9p syndromes. WGS was applied to 100 individuals, and other genomic technologies were applied to a subset of individuals. To prioritize genes on 9p, we util

SUBMITTER: Wang Y 

PROVIDER: S-EPMC12551315 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature