Automated fingerprint analysis as a diagnostic tool for the genetic disorder Kabuki syndrome.

ABSTRACT:

Purpose

Emerging therapeutic strategies for Kabuki syndrome (KS) make early diagnosis critical. Fingerprint analysis as a diagnostic aid for KS diagnosis could facilitate early diagnosis and expand the current patient base for clinical trials and natural history studies.

Method

Fingerprints of 74 individuals with KS, 1 individual with a KS-like phenotype, and 108 controls were collected through a mobile app. KS fingerprint patterns were studied using logistic regression and a convolutional neural network to differentiate KS individuals from controls.

Results

Our analysis identified 2 novel KS metrics (folding finger ridge count and simple pattern), which significantly differentiated KS fingerprints from controls, producing an area under the receiver operating characte

SUBMITTER: Agustsson VI 

PROVIDER: S-EPMC11613772 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature