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Open access

Research article

First published 2024-10

Smart variant filtering - A blueprint solution for massively parallel sequencing-based variant analysis

Orlinda Brahimllari, Sandra Eloranta, Patrik Georgii-Hemming [...]

Health Informatics Journal

Retricted access

Case report

First published 2020-10

Leber Congenital Amaurosis With Coats-Like Reaction and 3 Novel Sequence Variants: A Short Report

Mehdi Tavakoli, Amy M. Huang, Linda Cernichiaro-Espinosa [...]

Journal of VitreoRetinal Diseases

Open access

Research article

First published 2022

Exploratory Data Analysis of Genomic Sequence of Variants of SARS-CoV-2 Reveals Sequence Divergence and Mutational Localization

Satyam Sangeet, Arshad Khan

Bioinformatics and Biology Insights

Open access

Research article

First published 2024-04-08

MitoH3: Mitochondrial Haplogroup and Homoplasmic/Heteroplasmic Variant Calling Pipeline for Alzheimer’s Disease Sequencing Project

Congcong Zhu, Tong Tong, John J. Farrell [...]

Journal of Alzheimer's Disease Reports

Free access

Research article

First published 2008-8

Identification and Characterization of Polyadenylation Signal (PAS) Variants in Human Genomic Sequences Based on Modified EST Clustering

Masami Kamasawa, Jun-ichi Horiuchi

In Silico Biology

Open access

Case report

First published 2020-8

A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2 : a case report and literature review

Janez Jan Arko, Marusa Debeljak, Mojca Zerjav Tansek [...]

Journal of International Medical Research

Retricted access

Research article

First published 2019-8

Whole-exome sequencing indicates FLG 2 variant associated with leg ulcers in Brazilian sickle cell anemia patients

Gabriela Queila de Carvalho-Siqueira, Galina Ananina, Bruno Batista de Souza [...]

Experimental Biology and Medicine

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Research article

First published 2023-10

“Nano COVID-19”: Nanopore sequencing of spike gene to identify SARS-CoV-2 variants of concern

Pattaraporn Nimsamer, Vorthon Sawaswong, Pavit Klomkliew [...]

Experimental Biology and Medicine

Open access

Case report

First published 2020-11

Targeted next-generation sequencing identified a novel variant of SOX10 in a Chinese family with Waardenburg syndrome type 2

Xiao-Wen Liu, Su-Yang Wang, Zhan-Kui Xing [...]

Journal of International Medical Research

Retricted access

Research article

First published 2019-1

A Workflow to Improve Variant Calling Accuracy in Molecular Barcoded Sequencing Reads

Michael Ta, Changchuan Yin, Gary Lee Smith [...]

Journal of Computational Biology

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