Recent Patents and Advances in the Next-Generation Sequencing Technologies

Lin, Biaoyang; Wang, Jun; Cheng, Yin

doi:10.2174/1874764710801010060

Cited by 21 publications

(14 citation statements)

References 34 publications

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“…The cost of sequencing is steadily decreasing, and within 5 years it will be well under $1,000. Third-generation sequencing technologies, using single-molecule physical measurements, will allow us to read sequences in lengths of 10,000 to 100,000 base-pairs at a time 18. Consequently, the speed of sequencing a human genome will be very rapid (e.g.…”

Section: Family Genome Sequencingmentioning

confidence: 99%

Systems Biology and P4 Medicine: Past, Present, and Future

Hood¹

2013

RMMJ

241

131

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Studying complex biological systems in a holistic rather than a “one gene or one protein” at a time approach requires the concerted effort of scientists from a wide variety of disciplines. The Institute for Systems Biology (ISB) has seamlessly integrated these disparate fields to create a cross-disciplinary platform and culture in which “biology drives technology drives computation.” To achieve this platform/culture, it has been necessary for cross-disciplinary ISB scientists to learn one another’s languages and work together effectively in teams. The focus of this “systems” approach on disease has led to a discipline denoted systems medicine. The advent of technological breakthroughs in the fields of genomics, proteomics, and, indeed, the other “omics” is catalyzing striking advances in systems medicine that have and are transforming diagnostic and therapeutic strategies. Systems medicine has united genomics and genetics through family genomics to more readily identify disease genes. It has made blood a window into health and disease. It is leading to the stratification of diseases (division into discrete subtypes) for proper impedance match against drugs and the stratification of patients into subgroups that respond to environmental challenges in a similar manner (e.g. response to drugs, response to toxins, etc.). The convergence of patient-activated social networks, big data and their analytics, and systems medicine has led to a P4 medicine that is predictive, preventive, personalized, and participatory. Medicine will focus on each individual. It will become proactive in nature. It will increasingly focus on wellness rather than disease. For example, in 10 years each patient will be surrounded by a virtual cloud of billions of data points, and we will have the tools to reduce this enormous data dimensionality into simple hypotheses about how to optimize wellness and avoid disease for each individual. P4 medicine will be able to detect and treat perturbations in healthy individuals long before disease symptoms appear, thus optimizing the wellness of individuals and avoiding disease. P4 medicine will 1) improve health care, 2) reduce the cost of health care, and 3) stimulate innovation and new company creation. Health care is not the only subject that can benefit from such integrative, cross-disciplinary, and systems-driven platforms and cultures. Many other challenges plaguing our planet, such as energy, environment, nutrition, and agriculture can be transformed by using such an integrated and systems-driven approach.

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Section: Family Genome Sequencingmentioning

confidence: 99%

Systems Biology and P4 Medicine: Past, Present, and Future

Hood¹

2013

RMMJ

241

131

View full text Add to dashboard Cite

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“…A comprehensive review of patents on the use of NGS for molecular diagnosis has been recently published by Lin et al [94].…”

Section: Novel Technologies and Trends In Diagnosticsmentioning

confidence: 99%

Recent patents and technology transfer for molecular diagnosis of β-thalassemia and other hemoglobinopathies

Breveglieri

Finotti

Borgatti

et al. 2015

Expert Opinion on Therapeutic Patents

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The most recent findings in the diagnostic approach for β-thalassemias are related to three major fields of investigation: moving towards ultrasensitive methodologies for effective detection of the primary causative mutation of β-thalassemia, including the development of polymerase chain reaction-free approaches and non-invasive prenatal diagnosis; comparing analyses of the genotype of β-thalassemia patients to high-HbF-associated polymorphisms; introducing whole genome association assays and next-generation sequencing. All these issues should be considered and discussed in the context of several aspects, including regulatory, ethical and social issues. DNA sequence data aligned with the identification of genes central to the induction, development, progression, and outcome of β-thalassemia will be a key point for directing personalized therapy.

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“…This enormous improvement has been achieved by massive parallel sequencing. While a Sanger sequence reaction produces DNA chains arbitrarily terminated at each of the different positions by introducing a dideoxynucleotide and subsequently separating the pool of these chains according to size by electrophoresis, NGS is based on the principle of "sequencing-by-synthesis" [3]. This means that the complementary integration of a nucleotide during chain prolongation (i.e., the sequencing reaction) is directly monitored by the sequencing machine.…”

Section: Introductionmentioning

confidence: 99%