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Articles (63)

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1-10 of 63 results for mutation annotation

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Select article: The Vulnerability of the Developing Brain: Analysis of Highly Expressed Genes in Infant C57BL/6 Mouse Hippocampus in Relation to Phenotypic Annotation Derived From Mutational Studies

Open access

Research article

First published 2022

The Vulnerability of the Developing Brain: Analysis of Highly Expressed Genes in Infant C57BL/6 Mouse Hippocampus in Relation to Phenotypic Annotation Derived From Mutational Studies

Angelica Lindlöf

Bioinformatics and Biology Insights

Select article: An NGS Workflow Blueprint for DNA Sequencing Data and Its Application in Individualized Molecular Oncology

Open access

Review article

First published 2015

An NGS Workflow Blueprint for DNA Sequencing Data and Its Application in Individualized Molecular Oncology

Jian Li, Aarif Mohamed Nazeer Batcha, Björn Gaining [...]

Cancer Informatics

Select article: Identification of Altered Genes in Gallbladder Cancer as Potential Driver Mutations for Diagnostic and Prognostic Purposes: A Computational Approach

Open access

Research article

First published 2020

Identification of Altered Genes in Gallbladder Cancer as Potential Driver Mutations for Diagnostic and Prognostic Purposes: A Computational Approach

Vívian D’Afonseca, Ariel D Arencibia, Alex Echeverría-Vega [...]

Cancer Informatics

Select article: Co-expression Network Analysis of Human lncRNAs and Cancer Genes

Open access

Research article

First published 2014

Co-expression Network Analysis of Human lncRNAs and Cancer Genes

Steven B. Cogill, Liangjiang Wang

Cancer Informatics

Select article: Mutations in lysine methyltransferase 2C and PEG3 are associated with tumor mutation burden,prognosis,and antitumor immunity in pancreatic adenocarcinoma patients

Open access

Research article

First published 2022

Mutations in lysine methyltransferase 2C and PEG3 are associated with tumor mutation burden,prognosis,and antitumor immunity in pancreatic adenocarcinoma patients

Yili Huang, Jinsong Liu, Xiaole Zhu

DIGITAL HEALTH

Select article: Rhabdomyosarcoma: How Advanced Molecular Methods Are Shaping the Diagnostic and Therapeutic Paradigm

Retricted access

Review article

First published 2021-9

Rhabdomyosarcoma: How Advanced Molecular Methods Are Shaping the Diagnostic and Therapeutic Paradigm

Petros Giannikopoulos, David M Parham

Pediatric and Developmental Pathology

Select article: A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita

Retricted access

Research article

First published 2019-05

A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita

Ahmad Almatrafi, Fatima Alfadhli, Yasir Naseem Khan [...]

Genetic Testing and Molecular Biomarkers

Select article: Independent Severe Cases of Heterozygous Familial Hypercholesterolemia Caused by the W483X and Novel W483G Mutations in the Low-Density Lipoprotein Receptor Gene That Were Clinically Diagnosed as Homozygous Cases

Retricted access

Research article

First published 2019-06

Independent Severe Cases of Heterozygous Familial Hypercholesterolemia Caused by the W483X and Novel W483G Mutations in the Low-Density Lipoprotein Receptor Gene That Were Clinically Diagnosed as Homozygous Cases

Shitong Cheng, Yue Wu, Wenhui Wen [...]

Genetic Testing and Molecular Biomarkers

Select article: Directional Association Measurement in Contingency Tables: Genomic Case

Open access

Research article

First published 2019-3

Directional Association Measurement in Contingency Tables: Genomic Case

Monika Piwowar, Tomasz KuŁaga

Journal of Computational Biology

Select article: vcfView: An Extensible Data Visualization and Quality Assurance Platform for Integrated Somatic Variant Analysis

Open access

Review article

First published 2020

vcfView: An Extensible Data Visualization and Quality Assurance Platform for Integrated Somatic Variant Analysis

Brian O’Sullivan, Cathal Seoighe

Cancer Informatics

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