Whole genome and exome sequencing reference datasets from a multi-center and cross-platform benchmark study

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F21%3A73610575" target="_blank" >RIV/61989592:15110/21:73610575 - isvavai.cz</a>

Result on the web

<a href="https://www.nature.com/articles/s41597-021-01077-5" target="_blank" >https://www.nature.com/articles/s41597-021-01077-5</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/s41597-021-01077-5" target="_blank" >10.1038/s41597-021-01077-5</a>

Result language

angličtina

Original language name

Whole genome and exome sequencing reference datasets from a multi-center and cross-platform benchmark study

Original language description

With the rapid advancement of sequencing technologies, next generation sequencing (NGS) analysis has been widely applied in cancer genomics research. More recently, NGS has been adopted in clinical oncology to advance personalized medicine. Clinical applications of precision oncology require accurate tests that can distinguish tumor-specific mutations from artifacts introduced during NGS processes or data analysis. Therefore, there is an urgent need to develop best practices in cancer mutation detection using NGS and the need for standard reference data sets for systematically measuring accuracy and reproducibility across platforms and methods. Within the SEQC2 consortium context, we established paired tumor-normal reference samples and generated whole-genome (WGS) and whole-exome sequencing (WES) data using sixteen library protocols, seven sequencing platforms at six different centers. We systematically interrogated somatic mutations in the reference samples to identify factors affecting detection reproducibility and accuracy in cancer genomes. These large cross-platform/site WGS and WES datasets using well-characterized reference samples will represent a powerful resource for benchmarking NGS technologies, bioinformatics pipelines, and for the cancer genomics studies.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

10608 - Biochemistry and molecular biology

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>S - Specificky vyzkum na vysokych skolach

Publication year

2021

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Scientific Data

ISSN

2052-4463

e-ISSN

—

Volume of the periodical

8

Issue of the periodical within the volume

1

Country of publishing house

GB - UNITED KINGDOM

Number of pages

14

Pages from-to

"nestránkováno"

UT code for WoS article

000716440300001

EID of the result in the Scopus database

2-s2.0-85118672553