Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study.

Alessia AzzaràLaura Risi AmbrogioniIlaria Cassano Carla Lintas Umile Giuseppe LongoVincenzo DenaroFiorella Gurrieri

Published in: Biology (2022)

this is the first whole-exome sequencing analysis within a family to explore genetic predisposition in RC tear. The results reveal the presence of common damaging variants among affected individuals in the COL23A1, EMILIN3, and HDAC10 genes.

Keyphrases

genome wide
rotator cuff
copy number
single cell
dna methylation
early onset
gene expression
bioinformatics analysis