Using the phenome and genome to improve genetic diagnosis for deafness

Robert W Eppsteiner; A. Eliot Shearer; Michael S Hildebrand; Richard J.H Smith; Kyle R Taylor; Adam P DeLuca; Todd E Scheetz; Terry A Braun; Thomas L Casavant; Steve Scherer; Patrick Huygen

doi:10.1177/0194599812454271

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Using the phenome and genome to improve genetic diagnosis for deafness

Journal article

Open access

Peer reviewed

Using the phenome and genome to improve genetic diagnosis for deafness

Robert W Eppsteiner, A. Eliot Shearer, Michael S Hildebrand, Richard J.H Smith, Kyle R Taylor, Adam P DeLuca, Todd E Scheetz, Terry A Braun, Thomas L Casavant, Steve Scherer, …

Otolaryngology - Head and Neck Surgery (United States), Vol.147(5), pp.975-977

2012

DOI: 10.1177/0194599812454271

PMCID: PMC3694170

PMID: 22785243

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Abstract

The advent of massively parallel sequencing (MPS) has revolutionized genetic testing for deafness by enabling personal genomics in diagnosis (for a comprehensive review, see Shearer et al1). This technology has drastically increased the throughput of genetic testing but concomitantly has exponentially increased the amount of genetic data generated. To address this deluge of data and to streamline analysis, we have developed a custom variant prioritization pipeline incorporating data from a patient’s genome and phenome (the patient’s phenotype). In aggregate, the patient’s phenome is his or her constellation of phenotypic traits, which for hearing loss includes the patien’s audioprofile (pattern of hearing loss on audiogram), temporal bone anatomy (imaging), and ocular pathology (fundoscopy). Here we present 3 cases to illustrate how knowledge of a patient’s phenome can assist variant prioritization by corroborating likely pathogenic variants and excluding variants of unknown significance (VUS).

Details

Title: Subtitle: Using the phenome and genome to improve genetic diagnosis for deafness
Creators: Robert W Eppsteiner
A. Eliot Shearer
Michael S Hildebrand
Richard J.H Smith
Kyle R Taylor
Adam P DeLuca
Todd E Scheetz
Terry A Braun
Thomas L Casavant
Steve Scherer
Patrick Huygen
Resource Type: Journal article
Publication Details: Otolaryngology - Head and Neck Surgery (United States), Vol.147(5), pp.975-977
DOI: 10.1177/0194599812454271
PMID: 22785243
PMCID: PMC3694170
NLM abbreviation: Otolaryngol Head Neck Surg
ISSN: 0194-5998
eISSN: 1097-6817
Language: English
Date published: 2012
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Electrical and Computer Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Center for Bioinformatics and Computational Biology; Otolaryngology; Internal Medicine; Ophthalmology and Visual Sciences
Record Identifier: 9983980091402771

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