Whole Exome Sequencing Among 26 Patients With Indeterminate Acute Liver Failure: A Pilot Study.

ABSTRACT:

Introduction

The etiology of acute liver failure (ALF) remains an important prognostic factor. The Acute Liver Failure Study Group recently reported that 150 of 2,718 adult patients with ALF (5.5%) had an indeterminate etiology. Our aim was to use whole exome sequencing to identify genetic variants associated with phenotypic, biochemical, and histologic features among patients with indeterminate ALF.

Methods

This effort has defined a cohort of well-pedigreed patients with indeterminate ALF; DNA samples extracted from whole blood samples were obtained from 26 respective patients with indeterminate ALF. These samples were kept at the Acute Liver Failure Study Group repository at the NIDDK, Bethesda. Whole exome sequencing and bioinformatics analysis were performed at the Mayo

SUBMITTER: Rakela J 

PROVIDER: S-EPMC6884351 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature