Accuracy and efficiency of germline variant calling pipelines for human genome data

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 2045-2322

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Accuracy and efficiency of germline variant calling pipelines for human genome data ; volume:10 ; number:1 ; day:19 ; month:11 ; year:2020 ; pages:1-12 ; date:12.2020
Scientific reports ; 10, Heft 1 (19.11.2020), 1-12, 12.2020

Creator: Zhao, Sen
Agafonov, Oleg
Azab, Abdulrahman
Stokowy, Tomasz
Hovig, Eivind

Contributor: SpringerLink (Online service)

DOI: 10.1038/s41598-020-77218-4

URN: urn:nbn:de:101:1-2020122423100371562563

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:25 AM CEST

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Zhao, Sen
Agafonov, Oleg
Azab, Abdulrahman
Stokowy, Tomasz
Hovig, Eivind
SpringerLink (Online service)

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iSVP: an integrated structural variant calling pipeline from high-throughput sequencing data

A method to reduce ancestry related germline false positives in tumor only somatic variant calling

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing

An optimized GATK4 pipeline for Plasmodium falciparum whole genome sequencing variant calling and analysis

Performance assessment of variant calling pipelines using human whole exome sequencing and simulated data

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Accuracy and efficiency of germline variant calling pipelines for human genome data

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Other Objects (12)

Benchmarking workflows to assess performance and suitability of germline variant calling pipelines in clinical diagnostic assays

Performance evaluation of pipelines for mapping, variant calling and interval padding, for the analysis of NGS germline panels

ToTem: a tool for variant calling pipeline optimization

Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery

Validation and assessment of variant calling pipelines for next-generation sequencing

Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance

iSVP: an integrated structural variant calling pipeline from high-throughput sequencing data

A method to reduce ancestry related germline false positives in tumor only somatic variant calling

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing

An optimized GATK4 pipeline for Plasmodium falciparum whole genome sequencing variant calling and analysis

Performance assessment of variant calling pipelines using human whole exome sequencing and simulated data

Empirical evaluation of variant calling accuracy using ultra-deep whole-genome sequencing data

Benchmarking workflows to assess performance and suitability of germline variant calling pipelines in clinical diagnostic assays

Performance evaluation of pipelines for mapping, variant calling and interval padding, for the analysis of NGS germline panels

ToTem: a tool for variant calling pipeline optimization

Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery

Validation and assessment of variant calling pipelines for next-generation sequencing

Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance

iSVP: an integrated structural variant calling pipeline from high-throughput sequencing data

A method to reduce ancestry related germline false positives in tumor only somatic variant calling

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing

An optimized GATK4 pipeline for Plasmodium falciparum whole genome sequencing variant calling and analysis

Performance assessment of variant calling pipelines using human whole exome sequencing and simulated data

Empirical evaluation of variant calling accuracy using ultra-deep whole-genome sequencing data

Benchmarking workflows to assess performance and suitability of germline variant calling pipelines in clinical diagnostic assays

Performance evaluation of pipelines for mapping, variant calling and interval padding, for the analysis of NGS germline panels

ToTem: a tool for variant calling pipeline optimization

Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery

Validation and assessment of variant calling pipelines for next-generation sequencing

Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance

iSVP: an integrated structural variant calling pipeline from high-throughput sequencing data

A method to reduce ancestry related germline false positives in tumor only somatic variant calling

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing

An optimized GATK4 pipeline for Plasmodium falciparum whole genome sequencing variant calling and analysis

Performance assessment of variant calling pipelines using human whole exome sequencing and simulated data

Empirical evaluation of variant calling accuracy using ultra-deep whole-genome sequencing data

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