Applications of digital PCR in precision medicine

Wong, Yin Kwan; Tsang, Hin-Fung; Xue, Vivian Weiwen; Chan, Cora; Au, Thomas Chi Chuen; Cho, W. C.; Chan, Lawrence Wing Chi; Wong, Sze Chuen Cesar

doi:10.1080/23808993.2017.1347482

Cited by 18 publications

(15 citation statements)

References 63 publications

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“…Digital PCR has been intensively applied to clinical diagnostics for its unrivaled accuracy, which is an essential requirement to identifying single nucleotide variation in clinical samples, such as in circulating DNA-based liquid biopsy 1,2,17,18 . For the third benchmark, we designed a TaqMan genotyping assay with two probes, each targeting an allele of SNP rs10092491 with FAM or HEX labeling (Supplementary Table 5 and Supplementary Fig.…”

Section: Resultsmentioning

confidence: 99%

“…The desire for better quantitative assessment of genetic information is always increasing. Techniques for sequence-specific nucleic acid quantification are key tools in biology and medicine, especially in scenarios involving rare genetic variant detection where both high sensitivity and high specificity are warranted 1-3 . Unlike real-time quantitative PCR (qPCR), where relative quantification is achieved using a standard curve, digital PCR (dPCR) 4 enables absolute quantification with up to single-molecule resolution.…”

Section: Main Textmentioning

confidence: 99%

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Lossless and Contamination-Free Digital PCR

Liao

Jiang

Chen

et al. 2019

Preprint

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20The realization of the vast potential of digital PCR (dPCR), to provide extremely 21 accurate and sensitive measurements in the clinical setting, has thus far been 22hindered by challenges such as assay robustness and high costs. Existing 23 popular dPCR platforms that target the clinic have not reached wide-spread 24 adoption, due to problems with sample loss and risk of contamination during 25 sample preparation, compartmentalization, and transfers; limitations of 26 dynamic range and signal-to-noise in the result readout also restricts broad 27 applications. Here we introduce a lossless and contamination-free dPCR 28 technology termed CLEAR-dPCR, which addresses these challenges by 29completing the dPCR sample preparation, PCR reaction, and readout all in one 30tube. We achieve this by adjusting the refractive index of the aqueous PCR mix 31to make the emulsion optically transparent, and devised a light-sheet 32 microscope to capture 3D images of the cleared emulsion for results readout. 33This approach demonstrates improved accuracy over existing dPCR platforms, 34and enables a greatly increased dynamic range to be comparable to that of 35 real-time quantitative PCR (qPCR). CLEAR-dPCR is an easy to operate, 36 sensitive and accurate dPCR platform that we envision will fulfill the potential 37 of dPCR for routine use clinical diagnosis. 38 39 2 Main Text 40 41The desire for better quantitative assessment of genetic information is always 42increasing. Techniques for sequence-specific nucleic acid quantification are 43 key tools in biology and medicine, especially in scenarios involving rare genetic 44 variant detection where both high sensitivity and high specificity are warranted 45 1-3

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Section: Resultsmentioning

confidence: 99%

Section: Main Textmentioning

confidence: 99%

Lossless and Contamination-Free Digital PCR

Liao

Jiang

Chen

et al. 2019

Preprint

View full text Add to dashboard Cite

show abstract

“…On the contrary, some situations may severely limit the availability of DNA or RNA, as well as in the presence of a small disease burden or for particular sites (i.e., the central nervous system or the eye), which make the biopsy impossible or too risky for the patient. Therefore, the collection of cell-free, circulating tumor DNA (ctDNA) in plasma, the socalled liquid biopsy, represents an optimal and easily accessible source of genetic material, which can be analyzed by techniques with the highest sensitivity (15)(16)(17). Moreover, pharmacogenetic analyses can exploit the very limited quantities of nucleic acids released by neoplastic cells in blood, cerebrospinal fluid (CSF) and aqueous humor.…”

Section: How Sensitive and Specific The Methods Could Bementioning

confidence: 99%

Precision Medicine in Lymphoma by Innovative Instrumental Platforms

et al. 2019

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“…In addition, to further develop more sensitive and accurate PCR technology, digital PCR (dPCR) was emerged to actualize the absolute quantification for nucleic acid detection and nucleotide copy number variant analysis [50]. With dPCR technique, the absolute quantitative results can be calculated with higher sensitivity through the statistical analysis of the target nucleic acid signals [51]. By combining with microfluidic chips [52] and droplet-based technology [53], many commercial dPCR systems have been widely applied and significantly broadened the applications of dPCR.…”

Section: Target Amplification-based Approachesmentioning

confidence: 99%

Nucleic Acids Analysis

Zhao

Zuo

et al. 2020

Sci. China Chem.

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In recent years, multi-modal entity linking (MEL) has garnered increasing attention in the research community due to its significance in numerous multi-modal applications. Video, as a popular means of information transmission, has become prevalent in people's daily lives. However, most existing MEL methods primarily focus on linking textual and visual mentions or offline videos's mentions to entities in multi-modal knowledge bases, with limited efforts devoted to linking mentions within online video content. In this paper, we propose a task called Online Video Entity Linking (OVEL), aiming to establish connections between mentions in online videos and a knowledge base with high accuracy and timeliness. To facilitate the research works of OVEL, we specifically concentrate on live delivery scenarios and construct a live delivery entity linking dataset called LIVE. Besides, we propose an evaluation metric that considers timelessness, robustness, and accuracy. Furthermore, to effectively handle OVEL task, we leverage a memory block managed by a Large Language Model and retrieve entity candidates from the knowledge base to augment LLM performance on memory management. The experimental results prove the effectiveness and efficiency of our method.

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Applications of digital PCR in precision medicine

Cited by 18 publications

References 63 publications

Lossless and Contamination-Free Digital PCR

Lossless and Contamination-Free Digital PCR

Precision Medicine in Lymphoma by Innovative Instrumental Platforms

Nucleic Acids Analysis

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