The first sequencing reference material released by US authorities

Source: Biostar / Mint 2015-5-19 National Institute of standards and Technology (NIST) recently released the first DNA reference material With it, the laboratory can evaluate the performance of whole genome sequencing, exome sequencing and target detection The full name of this reference material is RM 8398 - human DNA for whole genome variant assessment (daughter of Utah / European anywhere) After paying $450, the lab can obtain a tube of 10 UG genomic DNA It is extracted from human lymphoblastic cell line According to NIST, laboratories can use reference materials to evaluate their library preparation methods, sequencers, and bioinformatics processes, such as location, alignment, and mutation detection "This material can be used to evaluate true positive, false positive, true negative, and false negative for mutation detection," NIST noted in the accompanying document After sequencing the reference DNA, the lab can compare their results with the reference values NIST provides a mutation detection file that contains information about SNPs, insertion deletions, and regions with high reliability The publication of reference materials benefited from the efforts of "genome in a bottle" project, led by NIST, which is committed to developing reference materials for human genome sequencing "This is the first and only reference material for genome sequencing, but more is planned," said Justin Zook, a biomedical engineer at NIST NIST and the in bottle genome project are also working to build reference materials for four other genomes, including three members of a German Jewish family (father, mother and son) and sons of an Asian family For these genomes, NIST and the in bottle genome project have generated short read and long read sequencing data Zook said a team was coordinating the data analysis of the genomes NIST plans to release these reference materials next year The release of these reference materials is consistent with the efforts of FDA In order to avoid the heavy burden of institutions and laboratories, FDA is establishing a new generation of flexible regulatory framework for sequencing testing It has held several meetings to discuss the monitoring of NGS testing and participated in NIST's development of reference materials Michael Newman, a representative of NIST, believes that these reference materials can be used as a "scale" in the human genome "It gives people a chance to know how their sequencer is doing," Newman said At this stage, however, it is entirely voluntary for laboratories to use NIST's reference materials and data to evaluate their sequencing process "These are not formal industry standards NIST is not a regulator, we can't tell people that they have to use these, "Newman said NIST expects regulators to use these reference materials as formal standards Currently, FDA has not released any guidelines or policies in this regard, but Newman pointed out that even though these reference materials are still under development, FDA has used them to review the next generation sequencing platform.