H
Heather Trang
Researcher at University of Toronto
Publications - 3
Citations - 225
Heather Trang is an academic researcher from University of Toronto. The author has contributed to research in topics: Exome & Trinucleotide repeat expansion. The author has an hindex of 3, co-authored 3 publications receiving 188 citations.
Papers
More filters
Journal ArticleDOI
PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases
Orion J. Buske,Marta Girdea,Sergiu Dumitriu,Bailey Gallinger,Taila Hartley,Heather Trang,Andriy Misyura,Tal Friedman,Chandree L. Beaulieu,William P. Bone,Amanda E. Links,Nicole L. Washington,Melissa A. Haendel,Peter N. Robinson,Cornelius F. Boerkoel,David R. Adams,William A. Gahl,Kym M. Boycott,Michael Brudno +18 more
TL;DR: PhenomeCentral identifies similar patients in the database based on semantic similarity between clinical features, automatically prioritized genes from whole‐exome data, and candidate genes entered by the users, enabling both hypothesis‐free and hypothesis‐driven matchmaking.
Journal ArticleDOI
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency
William P. Bone,Nicole L. Washington,Orion J. Buske,David R. Adams,Joie Davis,David W. Draper,Elise D. Flynn,Marta Girdea,Rena A. Godfrey,Gretchen Golas,Catherine Groden,Julius O.B. Jacobsen,Sebastian Köhler,Elizabeth M. J. Lee,Amanda E. Links,Thomas C. Markello,Christopher J. Mungall,Michele Nehrebecky,Peter N. Robinson,Murat Sincan,Ariane Soldatos,Cynthia J. Tifft,Camilo Toro,Heather Trang,Elise Valkanas,Nicole Vasilevsky,Colleen E. Wahl,Lynne A. Wolfe,Cornelius F. Boerkoel,Michael Brudno,Melissa A. Haendel,William A. Gahl,Damian Smedley +32 more
TL;DR: Structured phenotyping of patients and computational analysis are effective adjuncts for diagnosing patients with genetic disorders.
Journal ArticleDOI
Massive CAG repeat expansion and somatic instability in maternally transmitted infantile spinocerebellar ataxia type 7.
Heather Trang,Sabrina Y. Stanley,Paul S. Thorner,Hannaneh Faghfoury,Andreas Schulze,Cynthia Hawkins,Christopher E. Pearson,Grace Yoon +7 more
TL;DR: The first case to date of maternally transmitted infantile spinocerebellar ataxia type 7 (SCA7), in which a tract of CAG45 expands to lengths as large as (CAG)92-250 is reported, which has implications for diagnosis and counseling among families of patients with SCA7.