Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome.

Anna Junkiert-CzarneckaMaria Pilarska-DeltowAneta BąkMarta HeiseAnna Latos-BieleńskaJacek ZarembaAlicja Bartoszewska-KubiakOlga Haus

Published in: Current issues in molecular biology (2022)

Next-generation sequencing, with an appropriate multigene panel, showed great potential to assist in the diagnosis of EDS and other connective tissue disorders. Our data also show that not all causative genes giving rise to cEDS have been elucidated yet.

Keyphrases

genome wide
copy number
genome wide identification
circulating tumor
electronic health record
dna methylation
genome wide analysis
case report
human health
risk assessment
data analysis
artificial intelligence
circulating tumor cells