Výsledky vyhledávání - "diagnostic exome sequencing"

Clinical whole-exome sequencing results impact medical management

Autor: Nancy Niguidula, Julie S. Cohen, Kelly D. Farwell Hagman, Christina Alamillo, Zöe Powis, Layla Shahmirzadi Mowlavi

Publikováno v: Molecular Genetics & Genomic Medicine

Background Clinical diagnostic whole‐exome sequencing (WES) is a powerful tool for patients with undiagnosed genetic disorders. To demonstrate the clinical utility, we surveyed healthcare providers (HCP) about changes in medical management and trea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8a09505f2953cb3eb22e9e315020e0b
https://doi.org/10.1002/mgg3.484

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Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies

Autor: Honey Nagakura, Katherine L. Helbig, Samin A. Sajan, Zöe Powis, LaDonna Immken, Wendy Alcaraz, Sha Tang

Publikováno v: Clinical Case Reports

Key Clinical Message Clinical diagnostic exome sequencing (DES) is currently infrequently used for detecting uniparental disomy (UPD). We present a patient with a dual diagnosis of GLI2 haploinsufficiency as well as UPD of chromosome 20, both identif

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54593313f0ab00e04bb91e5b997bac53
http://europepmc.org/articles/PMC6028413

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Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Autor: Kelly D. Farwell Hagman, Deepali N. Shinde, Cameron Mroske, Erica Smith, Kelly Radtke, Layla Shahmirzadi, Dima El-Khechen, Zöe Powis, Elizabeth C. Chao, Wendy A. Alcaraz, Katherine L. Helbig, Samin A. Sajan, Mari Rossi, Hsiao-Mei Lu, Robert Huether, Shuwei Li, Sitao Wu, Mark E. Nuñes, Sha Tang

Publikováno v: Genetics in Medicine

Purpose: Diagnostic exome sequencing (DES) is now a commonly ordered test for individuals with undiagnosed genetic disorders. In addition to providing a diagnosis for characterized diseases, exome sequencing has the capacity to uncover novel candidat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a534eb013e4c6bb0f052f6815270059
http://europepmc.org/articles/PMC7608241

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Classification of Genes: Standardized Clinical Validity Assessment of Gene–Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

Autor: Kendra Waller, Deepali N. Shinde, Mari Rossi, Zöe Powis, Kelly Radtke, Erica D. Smith, Sourat Darabi, Sha Tang, Kelly D. Farwell Hagman, Katherine L. Helbig, Dima El-Khechen, Dorothy K. Grange

Publikováno v: Human Mutation

Ascertaining a diagnosis through exome sequencing can provide potential benefits to patients, insurance companies, and the healthcare system. Yet, as diagnostic sequencing is increasingly employed, vast amounts of human genetic data are produced that

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e06d78db490af3b4061bee11d2262d94
http://europepmc.org/articles/PMC5655771

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Correction: Genomic knowledge in the context of diagnostic exome sequencing: changes over time, persistent subgroup differences, and associations with psychological sequencing outcomes

Autor: Margaret Waltz, Jonathan S. Berg, Myra I. Roche, Christine Rini, Ida Griesemer, Gail E. Henderson, Julianne M. O’Daniel, James P. Evans, Ann Katherine M. Foreman

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics

Purpose People undergoing diagnostic genome-scale sequencing are expected to have better psychological outcomes when they can incorporate and act on accurate, relevant knowledge that supports informed decision making. Methods This longitudinal study

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a63703e85a0506aa6308ac1e942786f5
https://pubmed.ncbi.nlm.nih.gov/31312045

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Recent Advances in the Clinical Application of Next-Generation Sequencing

Autor: Chang-Seok Ki

Publikováno v: Pediatric Gastroenterology, Hepatology & Nutrition

Next-generation sequencing (NGS) technologies have changed the process of genetic diagnosis from a gene-by-gene approach to syndrome-based diagnostic gene panel sequencing (DPS), diagnostic exome sequencing (DES), and diagnostic genome sequencing (DG

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ec4f6a4486b46ba59e951f238960328
https://doi.org/10.5223/pghn.2021.24.1.1

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Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal‐Dominant Hereditary Connective Tissue Disease

Autor: Paola Spessotto, Francesco Bucciotti, Peter J. Hulick, Roberto Doliana, Cameron Mroske, Qingshen Gao, Kelly D. Farwell, Brigette Tippin Davis, Alfonso Colombatti, Scott M. Weissman, Alessandra Capuano

Publikováno v: Human Mutation

Heritable connective tissue diseases are a highly heterogeneous family of over 200 disorders that affect the extracellular matrix. While the genetic basis of several disorders is established, the etiology has not been discovered for a large portion o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04d1e9ba6e53f0238f01d713a1dba952
http://europepmc.org/articles/PMC4738430

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