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Open access

Research article

First published 2025

Integrated Genomic Approaches to Elucidate the Genetic Basis of Brugada Syndrome in Taiwanese Patients

Chayanika Goswami, Jyh-Ming Jimmy Juang, Tzu-Pin Lu [...]

Bioinformatics and Biology Insights

Open access

Review article

First published 2020

Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?

Marco Savarese, Salla Välipakka, Mridul Johari [...]

Journal of Neuromuscular Diseases

Open access

Review article

First published 2018

Perspective: DNA Copy Number Variations in Cardiovascular Diseases

Aatira Vijay, Iti Garg, Mohammad Zahid Ashraf

Epigenetics Insights

Retricted access

Research article

First published 2011-01

Analysis of Immune Regulatory Genes' Copy Number Variants in Graves' Disease

Amanda K. Huber, Erlinda S. Concepcion, Alisha Gandhi [...]

Thyroid®

Open access

Review article

First published 2014

Hidden Markov Model-Based CNV Detection Algorithms for Illumina Genotyping Microarrays

Eric L. Seiser, Federico Innocenti

Cancer Informatics

Open access

Research article

First published 2024-8

Prenatal diagnosis and genetic counseling of a de novo 10q11.21q11.23 duplication associated with a normal phenotype

Liu Ouyang, Yan Li, Fangfang Liu [...]

Journal of International Medical Research

Retricted access

Research article

First published 2015-12

The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles

Mary Kusenda, Vladimir Vacic, Dheeraj Malhotra [...]

Journal of Child Neurology

Open access

Other

First published 2016

RefCNV: Identification of Gene-Based Copy Number Variants Using Whole Exome Sequencing

Lun-Ching Chang, Biswajit Das, Chih-Jian Lih [...]

Cancer Informatics

Open access

Review article

First published 2020

inCNV: An Integrated Analysis Tool for Copy Number Variation on Whole Exome Sequencing

Saowwapark Chanwigoon, Sakkayaphab Piwluang, Duangdao Wichadakul

Evolutionary Bioinformatics

Free access

Research article

First published 2014-5

Genome-Wide Scan for Copy Number Variation Association with Biomarker Quantitative Trait Loci in Aging

K. Szigeti, B. Trummer, D. Lal [...]

European Journal of Inflammation

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