Exome sequencing in patient-parent trios suggests new candidate genes for early-onset primary sclerosing cholangitis.

Sjoukje-Marije HaismaRinse K WeersmaMaria E JoosseBarbara A E de KoningTim de MeijBart G P KootVictorien WoltersObbe NorbruisMark J DalyChristine StevensRamnik J XavierJukka T KoskelaManuel A RivasMarijn C VisschedijkHenkjan J VerkadeRuggero BarbieriDianne B H JansenEleonora A M FestenPatrick F van RheenenCleo C van Diemen

Published in: Liver international : official journal of the International Association for the Study of the Liver (2021)

The 36 candidate genes for early-onset PSC need further verification in other patient cohorts and evaluation of gene function before a causal role can be attributed to its variants.

Keyphrases

early onset
late onset
copy number
case report
single cell
genome wide
gene expression
genome wide identification