Caroline Wright

Professor

University of Exeter

United Kingdom

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Professor Caroline Wright is a faculty member at the University of Exeter, United Kingdom. Her research focuses on genomic analysis related to developmental disorders, including the identification of genetic variants, penetrance estimation, and the use of computational tools for variant classification. She has contributed significantly to understanding the genetic underpinnings of rare pediatric diseases and the role of genomic diagnosis in clinical settings.

Caroline Wright

Research Interests

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Articles (20)

Whole-genome sequencing analysis identifies rare, large-effect noncoding variants and regulatory regions associated with circulating protein levels

Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts

Genetic modifiers of rare variants in monogenic developmental disorder loci

Phenotypic spectrum of dual diagnoses in developmental disorders

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.

Importance of adopting standardized MANE transcripts in clinical reporting

Evaluating the use of paralogous protein domains to increase data availability for missense variant classification

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels

Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

Estimating diagnostic noise in panel-based genomic analysis.

Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts

Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.

Recommendations for clinical interpretation of variants found in non-coding regions of the genome.

Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population.

Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.

Author Correction: Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

Collaborators (14)

Julius Jacobsen

Kashyap A Patel

Edward Tobias

Manuel Corpas

James Buchanan

James Ware

Sarah Hunt

Marcus Schewe

Volker Straub

Michael Simpson

Jamie Ellingford

Gareth Hawkes

Huw Thomas

Dimitris Polychronopoulos

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