On September 9, the topic of "Nature-Biotechnology" released the latest research results of the fourth phase of the International Omics Data Quality Control Alliance (MAQC-IV, also known as "Sequencing Quality Control Phase II SEQC2")
The project was led by the U.
For a long time, due to the lack of suitable reference materials, it is impossible to generate standardized DNA sequencing data sets and to conduct comprehensive testing and evaluation of the performance of different sequencing processes or different algorithms, which restricts the implementation and widespread use of tumor genomics methods
In the research, the scientific research team established a genomic DNA reference material based on a highly heterogeneous triple-negative breast cancer cell line rich in somatic mutations and its paired normal lymphoblastic cell line; subsequently, multiple whole-genome sequencing platforms were used , Multiple database construction methods and multiple bioinformatics methods have obtained high-confidence somatic mutations and germline mutations in the whole genome, and verified them using different whole-exome sequencing platforms and high-depth targeted sequencing
In another paper titled "Best Practices for Cancer Mutation Detection Using Whole Genome and Whole Exome Sequencing", the researchers focused on how to develop accurate and reliable detection methods for clinical applications in oncology medicine, and truly find meaning The tumor-specific mutations rather than the technical errors that may be caused by each link in the next-generation sequencing process
Previously, the biomedical community did not have large-scale sequencing studies involving cross-laboratory reproducibility, nor did it systematically explore how biological, technological, and computational factors affect the identification of somatic mutations
While publishing the above series of results and papers, "Nature-Biological Sciences" also distributed an editorial written by the editor-in-chief Andrew Marshall at the same time.
The same issue also published a comment jointly written by Stanford University professor Marc Salit (formerly the head of the GIAB in-bottle genome project at the National Institute of Standards and Technology) and Janet Woodcock, Executive Director of the FDA-"International Alliance for Omics Data Quality Control And the Medical Age of Genomics"
The International Omics Data Quality Control Alliance (MAQC) was founded in 2005 by Shi Leming, a senior researcher at the US FDA.
On this basis, the International Society for Omics Big Data Quality Control was established on April 12, 2017, and successfully held the Global Academic Annual Conference at Fudan University in February 2018
Related paper information: https://doi.
https://doi.
org/10.
1038/s41587-021-00993-6
This article is an English version of an article which is originally in the Chinese language on echemi.com and is provided for information purposes only.
This website makes no representation or warranty of any kind, either expressed or implied, as to the accuracy, completeness ownership or reliability of
the article or any translations thereof. If you have any concerns or complaints relating to the article, please send an email, providing a detailed
description of the concern or complaint, to
service@echemi.com. A staff member will contact you within 5 working days. Once verified, infringing content
will be removed immediately.
![3-bromodibenzo[b,d]thiophene](https://file.echemi.com/fileManage/upload/cas/822/bb4496d0-decc-11eb-89d6-0255ac100033.png)
