Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.

ABSTRACT:

Background

Prospective genetic evaluation of patients at this referral research hospital presents clinical research challenges.

Objectives

This study sought not only a single-gene explanation for participants' immune-related presentations, but viewed each participant holistically, with the potential to have multiple genetic contributions to their immune phenotype and other heritable comorbidities relevant to their presentation and health.

Methods

This study developed a program integrating exome sequencing, chromosomal microarray, phenotyping, results return with genetic counseling, and reanalysis in 1505 individuals from 1000 families with suspected or known inborn errors of immunity.

Results

Probands were 50.8% female, 71.5% were ≥18 years, and had diverse imm

SUBMITTER: Similuk MN 

PROVIDER: S-EPMC9547837 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature