P657: Real-world evaluation of ExpansionHunter for detecting STR expansions in whole-exome sequencing data: Insights from a clinical diagnostic setting

P657: Real-world evaluation of ExpansionHunter for detecting STR expansions in whole-exome sequencing data: Insights from a clinical diagnostic setting

Saved in:

Bibliographic Details
Main Authors:	Matheus Castro, João Paulo Kitajima, Fabíola Monteiro, David Schlesinger, Fernando Kok
Format:	Article
Language:	English
Published:	Elsevier 2025-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774425010659
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Whole Exome Sequencing in Atrial Fibrillation.
by: Steven A Lubitz, et al.
Published: (2016-09-01)

Whole-exome sequencing of patients with juvenile myoclonic epilepsy
by: E. E. Timechko, et al.
Published: (2022-10-01)

Whole Exome Sequencing in Chinese Pediatric Patients With Nephrolithiasis
by: Xiaochuan Wang, et al.
Published: (2025-08-01)

Whole exome sequencing enhances diagnosis of hereditary bronchiectasis
by: Wangji Zhou, et al.
Published: (2025-03-01)

Whole-exome sequencing analysis identifies risk genes for schizophrenia
by: Sophie L. Chick, et al.
Published: (2025-08-01)

Importance of whole exome sequencing in diagnosis of diseases (the Libyan experience)
by: M Kara
Published: (2017-01-01)

Whole exome sequencing in oral oncology as a diagnostic tool
by: Kowsalya P, et al.
Published: (2024-06-01)

The Importance of Prenatal Whole-Exome Sequencing Testing in the Romanian Population
by: Ileana-Delia Săbău, et al.
Published: (2025-03-01)

Application of whole exome sequencing in patients with primary ciliary dyskinesia
by: Ke CHEN, et al.
Published: (2024-12-01)

SEXCMD: Development and validation of sex marker sequences for whole-exome/genome and RNA sequencing.
by: Seongmun Jeong, et al.
Published: (2017-01-01)

NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
by: William C Reinhold, et al.
Published: (2014-01-01)

Optimized detection of insertions/deletions (INDELs) in whole-exome sequencing data.
by: Bo-Young Kim, et al.
Published: (2017-01-01)

A decade of whole-exome sequencing in Brazilian Neurology: from past insights to future perspectives
by: Caio Robledo D'Angioli Costa Quaio, et al.
Published: (2025-04-01)

A Survey of Computational Tools to Analyze and Interpret Whole Exome Sequencing Data
by: Jennifer D. Hintzsche, et al.
Published: (2016-01-01)

Clinical use of whole exome sequencing in children with developmental delay/intellectual disability
by: Yoon Hee Jo, et al.
Published: (2024-09-01)

Genetic analysis of non-syndromic peg lateralis using whole-exome sequencing
by: Junglim Choi, et al.
Published: (2025-08-01)

Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali
by: Abdoulaye Yalcouyé, et al.
Published: (2025-01-01)

Development of a whole-exome sequencing kit to facilitate porcine biomedical research
by: Vishwaarth Vijayakumar, et al.
Published: (2025-05-01)

Application of family whole-exome sequencing for prenatal diagnosis—an analysis of 357 cases
by: Yijun Ge, et al.
Published: (2025-08-01)

Whole-Exome Sequencing Improves Understanding of Inherited Retinal Dystrophies in Korean Patients
by: Youngchan Park, et al.
Published: (2024-09-01)

Whole-Exome Sequencing: Is It a Panacea for Every Diagnostic Enigma in Clinical Medicine?
by: Kirtisudha Mishra
Published: (2024-08-01)

Whole exome sequencing identifies genomic alterations in proximal and distal colorectal cancer
by: Ryia-Illani Mohd Yunos, et al.
Published: (2019-09-01)

Whole exome sequencing identifies KCNH7 variants associated with epilepsy in children
by: Fan Wu, et al.
Published: (2025-03-01)

Identification of candidate genes in a family with cancer overload by whole-exome sequencing
by: Demet Akdeniz Ödemiş, et al.
Published: (2022-06-01)

Whole-genome sequencing, as a powerful diagnostic tool in hearing loss, reveals novel variants in PTPRQ missed by whole-exome sequencing
by: Daniel Bengl, et al.
Published: (2025-03-01)

Etiological diagnosis of miscarriage by combining use of chromosomal microarray analysis and whole-exome sequencing
by: Jianlong Zhuang, et al.
Published: (2025-07-01)

Whole exome sequencing of high-risk neuroblastoma identifies novel non-synonymous variants.
by: Weronika Przybyła, et al.
Published: (2022-01-01)

Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing
by: Shahzad Ahmad, et al.
Published: (2025-04-01)

Diagnosis of fetal nemaline myopathy by whole-exome sequencing: case report and review of literature
by: Q.C. Wu, et al.
Published: (2020-12-01)

Trio-based whole-exome sequencing reveals mutations in early-onset high myopia
by: Ding Chen, et al.
Published: (2024-05-01)

Expanding the phenotypic and genetic landscape of congenital neutropenia through whole‐exome and genome sequencing
by: Séverine Marti, et al.
Published: (2025-06-01)

Benchmarking of variant calling software for whole-exome sequencing using gold standard datasets
by: Matthew Wong, et al.
Published: (2025-04-01)

Whole exome sequencing-based homologous recombination deficiency test for epithelial ovarian cancer
by: Ying-Cheng Chiang, et al.
Published: (2025-01-01)

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.
by: Amélie Bonnefond, et al.
Published: (2010-10-01)

Application of copy number variation sequencing combined with whole exome sequencing in prenatal left–right asymmetry disorders
by: Yu Qin, et al.
Published: (2025-01-01)

Whole-exome sequencing for prenatal diagnosis of fetal anomalies: insights from a Jordanian cohort
by: Mohammad Shboul, et al.
Published: (2025-12-01)

Whole exome sequencing: the search for mutations associated with hereditary breast cancer in ethnic groups of Siberia
by: P. A. Gervas, et al.
Published: (2024-11-01)

Energy metabolism and whole-exome sequencing-based analysis of Sasang constitution: a pilot study
by: Hyoung Kyu Kim, et al.
Published: (2017-06-01)

Whole Exome Sequencing in 26 Saudi Patients Expands the Mutational and Clinical Spectrum of Diabetic Nephropathy
by: Imadeldin Elfaki, et al.
Published: (2025-05-01)

Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population
by: Pam A.T. Heutinck, et al.
Published: (2025-07-01)