| Title |
ICO Amplicon NGS Data Analysis: A Web Tool for Variant Detection in Common High‐Risk Hereditary Cancer Genes Analyzed by Amplicon GS Junior Next‐Generation Sequencing
|
|---|---|
| Published in |
Human Mutation, December 2013
|
| DOI | 10.1002/humu.22484 |
| Pubmed ID | |
| Authors |
Adriana Lopez‐Doriga, Lídia Feliubadaló, Mireia Menéndez, Sergio Lopez‐Doriga, Francisco D. Morón‐Duran, Jesús del Valle, Eva Tornero, Eva Montes, Raquel Cuesta, Olga Campos, Carolina Gómez, Marta Pineda, Sara González, Victor Moreno, Gabriel Capellá, Conxi Lázaro |
| Abstract |
Next-generation sequencing (NGS) has revolutionized genomic research and is set to have a major impact on genetic diagnostics thanks to the advent of benchtop sequencers and flexible kits for targeted libraries. Among the main hurdles in NGS are the difficulty of performing bioinformatic analysis of the huge volume of data generated and the high number of false positive calls that could be obtained, depending on the NGS technology and the analysis pipeline. Here, we present the development of a free and user-friendly Web data analysis tool that detects and filters sequence variants, provides coverage information, and allows the user to customize some basic parameters. The tool has been developed to provide accurate genetic analysis of targeted sequencing of common high-risk hereditary cancer genes using amplicon libraries run in a GS Junior System. The Web resource is linked to our own mutation database, to assist in the clinical classification of identified variants. We believe that this tool will greatly facilitate the use of the NGS approach in routine laboratories. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 33% |
| United States | 1 | 33% |
| India | 1 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 67% |
| Scientists | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 17 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 6% |
| Unknown | 16 | 94% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 7 | 41% |
| Professor > Associate Professor | 3 | 18% |
| Student > Ph. D. Student | 2 | 12% |
| Other | 1 | 6% |
| Student > Doctoral Student | 1 | 6% |
| Other | 2 | 12% |
| Unknown | 1 | 6% |
| Readers by discipline | Count | As % |
|---|---|---|
| Computer Science | 4 | 24% |
| Biochemistry, Genetics and Molecular Biology | 3 | 18% |
| Agricultural and Biological Sciences | 3 | 18% |
| Medicine and Dentistry | 2 | 12% |
| Social Sciences | 1 | 6% |
| Other | 1 | 6% |
| Unknown | 3 | 18% |
Attention Score in Context
This research output has an Altmetric Attention Score of 16. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 01 June 2019.
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Outputs from Human Mutation
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Outputs of similar age from Human Mutation
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