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Abstract DNA re-identification is used for a broad suite of applications, ranging from cell line authentication to forensics. However, current re-identification schemes suffer from high latency and limited access. Here, we describe a rapid, inexpensive, and portable strategy to robustly re-identify human DNA called 'MinION sketching'. MinION sketching requires as few as 3 min of sequencing and 60-300 random SNPs to re-identify a sample enabling near real-time applications of DNA re-identification. Our method capitalizes on the rapidly growing availability of genomic reference data for cell lines, tissues in biobanks, and individuals. This empowers the application of MinION sketching in research and clinical settings for periodic cell line and tissue authentication. Importantly, our method enables considerably faster and more robust cell line authentication relative to current practices and could help to minimize the amount of irreproducible research caused by mix-ups and contamination in human cell and tissue cultures.
AbstractList DNA re-identification is used for a broad suite of applications, ranging from cell line authentication to forensics. However, current re-identification schemes suffer from high latency and limited access. Here, we describe a rapid, inexpensive, and portable strategy to robustly re-identify human DNA called 'MinION sketching'. MinION sketching requires as few as 3 min of sequencing and 60-300 random SNPs to re-identify a sample enabling near real-time applications of DNA re-identification. Our method capitalizes on the rapidly growing availability of genomic reference data for cell lines, tissues in biobanks, and individuals. This empowers the application of MinION sketching in research and clinical settings for periodic cell line and tissue authentication. Importantly, our method enables considerably faster and more robust cell line authentication relative to current practices and could help to minimize the amount of irreproducible research caused by mix-ups and contamination in human cell and tissue cultures.
DNA re-identification is used for a broad suite of applications, ranging from cell line authentication to forensics. However, current re-identification schemes suffer from high latency and limited access. Here, we describe a rapid, inexpensive, and portable strategy to robustly re-identify human DNA called 'MinION sketching'. MinION sketching requires as few as 3 min of sequencing and 60-300 random SNPs to re-identify a sample enabling near real-time applications of DNA re-identification. Our method capitalizes on the rapidly growing availability of genomic reference data for cell lines, tissues in biobanks, and individuals. This empowers the application of MinION sketching in research and clinical settings for periodic cell line and tissue authentication. Importantly, our method enables considerably faster and more robust cell line authentication relative to current practices and could help to minimize the amount of irreproducible research caused by mix-ups and contamination in human cell and tissue cultures. The human genome represents the complete set of genetic information needed to make a person. DNA sequencing technologies used to study genomes have become much faster, cheaper and more accessible over recent years. This has enabled them to be used more regularly in various fields like precision medicine, in research laboratories and forensics. Even so, there are still fields where optimization is critical. Reproducibility is an important issue in biomedical research; one group of scientists working with human cells may report results that other scientists cannot reproduce. Sometimes this is because the original work was done in the wrong type of cells by mistake. Human cells used in biomedical research are very hard to discriminate from each other using microscopes; however, DNA analysis can be used to ensure the origin of the cells. The MinION device, a USB compatible handheld DNA sequencer, has become available in the last few years. Its size, speed and portability could enable many new uses for DNA sequencing. Technology like this could be used to confirm which cells the scientists are working with before they publish their results. Yet, currently DNA readings from the MinION are not accurate enough to be used to reliably confirm the identity of human cells used in research. Zaaijer et al. have now developed an approach that can accurately identify human cells using the MinION device. The approach involves “DNA re-identification”, which works by comparing an unknown DNA sample to a collection of known DNA profiles. Using their new method, Zaaijer et al. report that, with three minutes of DNA sequencing, they can correctly identify a DNA sample, with 99.9% confidence. This is a high enough level of accuracy for the system to tell the difference between one person and another, using only their DNA. This new technology is much faster than current rapid DNA sequencing approaches. Previously, processing DNA samples could take hours or even days and was not particularly portable. The new technology has many applications from finding criminals to diagnosing illnesses and tracking epidemics. It is also an affordable way for laboratories to confirm the identity of cells they are working with. This has the potential to save billions in research funding each year and speed up scientific progress.
Author Gordon, Assaf
Piccone, Robert
Erlich, Yaniv
Groen, Simon Cornelis
Speyer, Daniel
Zaaijer, Sophie
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  surname: Erlich
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  organization: Department of Computer Science, Fu Foundation School of Engineering, Columbia University, New York, United States
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Keywords nanopore sequencing
forensics
cell biology
evolutionary biology
cell line authentication
re-identification
genomics
DNA fingerprinting
human
Language English
License http://creativecommons.org/licenses/by/4.0
This article is distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use and redistribution provided that the original author and source are credited.
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Jacobs Technion-Cornell Institute at Cornell Tech, New York, United States.
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  publication-title: Nature Reviews Genetics
  doi: 10.1038/nrg2952
  contributor:
    fullname: Kayser
– volume-title: Assay Guidance Manual
  year: 2013
  ident: bib28
  contributor:
    fullname: Reid
– volume: 7
  start-page: 60475
  year: 2016
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  article-title: A single nucleotide polymorphism genotyping platform for the authentication of patient derived xenografts
  publication-title: Oncotarget
  doi: 10.18632/oncotarget.11125
  contributor:
    fullname: El-Hoss
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Snippet DNA re-identification is used for a broad suite of applications, ranging from cell line authentication to forensics. However, current re-identification schemes...
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SubjectTerms Cancer
Cell Biology
cell line authentication
Cell lines
Computational Biology - methods
Computer science
Contamination
Data processing
Deoxyribonucleic acid
DNA
DNA - chemistry
DNA - genetics
DNA fingerprinting
DNA sequencing
Forensic science
Forensic sciences
forensics
Genetic testing
Genetics and Genomics
Genomes
Genotyping Techniques - methods
Humans
Identification
Laboratories
Laboratory equipment
Latency
nanopore sequencing
Polymorphism, Single Nucleotide
Probability
re-identification
Sequence Analysis, DNA - methods
Single-nucleotide polymorphism
Time Factors
Tools and Resources
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Title Rapid re-identification of human samples using portable DNA sequencing
URI https://www.ncbi.nlm.nih.gov/pubmed/29182147
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