Article

Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes

2025-03-30

Abstract excerpt

<h4>ABSTRACT</h4> Previous genomic efforts on chromosome 9p deletion and duplication syndromes have utilized low resolution strategies (i.e., karyotypes, chromosome microarrays). We present the first large-scale whole-genome sequencing (WGS) study of 100 individuals from families with 9p-related syndromes including 85 unrelated probands through the 9P-ARCH ( A dvanced R esearch in C hromosomal H ealth: Genomic, Ph...

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Literature Corpus work: e2085573-adee-5e94-ad64-c795d00bca4c
DOI: 10.1101/2025.03.28.25324850

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