Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency.

ABSTRACT:

Background

Next-generation sequencing has become a first-line tool for the diagnosis of primary immunodeficiency. However, patient access remains limited because of restricted insurance coverage and a lack of guidelines addressing the use of targeted panels versus whole-exome sequencing (WES).

Objectives

We sought to compare targeted next-generation sequencing with WES in a global population of patients with primary immunodeficiency.

Methods

This was a longitudinal study of 878 patients with likely primary immunodeficiency sequenced between 2010 and 2020. Most patients (n = 780) were first sequenced using a 264 gene panel. This was followed by WES in selected cases if a candidate gene was not found. A subset of patients (n = 98) were selected for a WES-only pipeline i

SUBMITTER: Platt CD 

PROVIDER: S-EPMC7870529 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature