MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis

Molecular Diagnosis ◽

Next Generation ◽

Single Nucleotide ◽

Variant Annotation ◽

Application of Next Generation Sequencing Approach to Molecular Diagnosis Of Hereditary Colorectal Cancer: Identification Of A Novel Heterozygous Single Nucleotide Germline Deletion In Msh2 Gene Cause Lynch Syndrome

Open Access Journal of Oncology and Medicine ◽

10.32474/oajom.2020.03.000171 ◽

2020 ◽

Vol 3 (5) ◽

Author(s):

Meifang Xiao

Keyword(s):

Colorectal Cancer ◽

Lynch Syndrome ◽

Molecular Diagnosis ◽

Hereditary Colorectal Cancer ◽

Next Generation ◽

Msh2 Gene ◽

Single Nucleotide ◽

A review of somatic single nucleotide variant calling algorithms for next-generation sequencing data

Computational and Structural Biotechnology Journal ◽

10.1016/j.csbj.2018.01.003 ◽

2018 ◽

Vol 16 ◽

pp. 15-24 ◽

Cited By ~ 96

Author(s):

Chang Xu

Keyword(s):

Variant Calling ◽

Next Generation Sequencing Data ◽

Next Generation ◽

Sequencing Data ◽

Single Nucleotide ◽

Simultaneous detection of single-nucleotide variant, deletion/insertion, and fusion in lung and thyroid carcinoma using cytology specimen and an RNA-based next-generation sequencing assay

Cancer Cytopathology ◽

10.1002/cncy.21963 ◽

2018 ◽

Vol 126 (3) ◽

pp. 158-169 ◽

Cited By ~ 11

Author(s):

Natalya V. Guseva ◽

Omar Jaber ◽

Aaron A. Stence ◽

Krishnaveni Sompallae ◽

Amani Bashir ◽

...

Keyword(s):

Thyroid Carcinoma ◽

Simultaneous Detection ◽

Next Generation ◽

Single Nucleotide ◽

Cytology Specimen ◽

Single Nucleotide Variant Detection Using Next Generation Sequencing

Clinical Genomics ◽

10.1016/b978-0-12-404748-8.00008-3 ◽

2015 ◽

pp. 109-127 ◽

Cited By ~ 4

Author(s):

David H. Spencer ◽

Bin Zhang ◽

John Pfeifer

Keyword(s):

Next Generation ◽

Single Nucleotide ◽

Variant Detection ◽

Quantification of fetal DNA in the plasma of pregnant women using next generation sequencing of frequent single nucleotide polymorphisms

Bulletin of Russian State Medical University ◽

10.24075/brsmu.2018.031 ◽

2018 ◽

pp. 29-33

Author(s):

J. Shubina ◽

◽

T Jankevic ◽

A. Yu. Goltsov ◽

I. S. Mukosey ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Pregnant Women ◽

Nucleotide Polymorphisms ◽

Next Generation ◽

Single Nucleotide ◽

Fetal Dna ◽

The applications of massive parallel sequencing (next-generation sequencing) in research and molecular diagnosis of human genetic diseases

Vietnam Journal of Science Technology and Engineering ◽

10.31276/vjste.60(2).30 ◽

2018 ◽

Vol 60 (2) ◽

pp. 30-43 ◽

Cited By ~ 1

Author(s):

Hieu T. Nguyen ◽

Huong T.T. Le ◽

Liem T. Nguyen ◽

Hu Lou ◽

Thomas LaFramboise ◽

...

Keyword(s):

Molecular Diagnosis ◽

Genetic Diseases ◽

Massive Parallel Sequencing ◽

Next Generation ◽

Parallel Sequencing ◽

Next Generation Sequencing In Clinical Molecular Diagnosis of Cancer: A Journey towards Personalized Diagnosis and Therapeutics

10.35841/medical-oncology.1.2.76-80 ◽

2016 ◽

Vol 01 (02) ◽

Author(s):

Tridip Chatterjee

Keyword(s):

Molecular Diagnosis ◽

Next Generation ◽

Diagnosis Of Cancer ◽

Personalized Diagnosis ◽

Next-Generation Sequencing of Lung Cancer EGFR Exons 18-21 Allows Effective Molecular Diagnosis of Small Routine Samples (Cytology and Biopsy)

PLoS ONE ◽

10.1371/journal.pone.0083607 ◽

2013 ◽

Vol 8 (12) ◽

pp. e83607 ◽

Cited By ~ 53

Author(s):

Dario de Biase ◽

Michela Visani ◽

Umberto Malapelle ◽

Francesca Simonato ◽

Valentina Cesari ◽

...

Keyword(s):

Lung Cancer ◽

Molecular Diagnosis ◽

Next Generation ◽

2019 IEEE 19th International Conference on Bioinformatics and Bioengineering (BIBE) ◽

Zazz: Variant Annotation and Exploration of Next Generation Sequencing Variants

10.1109/bibe.2019.00159 ◽

2019 ◽

Author(s):

Maria Astrinaki ◽

Alexandros Kanterakis ◽

Helen Latsoudis ◽

George Potamias ◽

Dimitris Kafetzopoulos

Keyword(s):

Next Generation ◽

Variant Annotation ◽

High concordance between next-generation sequencing and single-nucleotide polymorphism array in preimplantation genetic testing for aneuploidy

Clinical and Experimental Obstetrics & Gynecology ◽

10.31083/j.ceog4901020 ◽

2022 ◽

Vol 49 (1) ◽

pp. 1

Author(s):

Zhanhui Ou ◽

Zhiheng Chen ◽

Yu Deng ◽

Ling Sun

Keyword(s):

Single Nucleotide Polymorphism ◽

Genetic Testing ◽

Single Nucleotide Polymorphism Array ◽

Next Generation ◽

Nucleotide Polymorphism ◽

Preimplantation Genetic Testing ◽

Single Nucleotide ◽

High Concordance ◽