Genetics technology broadly describes the tools and processes used to identify, treat, or monitor genetic disorders. Genetics technology can include laboratory testing, scientific instruments, and analytical software programs.
The widespread adoption of precision medicine in oncology requires: a compendium of therapies targeting the genetic vulnerabilities of cancer; the diagnostic tools capable of generating a pr...
The effective implementation of personalised cancer therapeutic regimens depends on the successful identification and translation of informative biomarkers to aid clinical decision making. Th...
Survival rates for early stage non-small cell lung cancer (NSCLC) remain unacceptably low compared to other common solid tumors. This mortality reflects a weakness in conventional staging, a...
It is now appreciated that breast cancer is not a single disease, but instead is a spectrum of tumor subtypes with distinct cellular origins, somatic changes and somewhat predictable clinical...
Developments in DNA sequencing technology have provided a unique opportunity for diagnosis and discovery of genetic alterations for rare diseases. Partnering with 20 academic centers in the U...
The use of ultrahigh throughput diagnostic tests that determine genetic sequence variation to guide patient care is rapidly expanding, fueled by the enormous growth in sequencing platform dev...
The role of the human genome in normal and patho-biology is crucial. Applied in cancer care and in a variety of unknown disorder settings, it can provide key insights and crucial diagnostic/p...
Since the introduction of second-generation DNS sequencing technologies in 2007, the cost of genome sequencing has been consistently by 33% per quarter, with the $1000 genome arriving in 2012...
Personalized medicine is transforming biomedical research and healthcare service delivery. Disease definition, diagnosis, treatment, and prevention are being fundamentally altered by the capa...
MicroRNAs are short non-coding cellular regulators of gene expression. Each microRNA controls the expression of a large set of genes, and microRNAs collectively, may regulate more than half o...
It is widely accepted that approximately 85% of known disease-causing DNA variants affect the exons and splice junctions, which is about 1% of the whole genome. As a result, Clinical Exome Se...
The rapid advancements in next generation sequencing have served the research market very well, delivering more and more sequence for less and less money. While these advancements are still b...
During IVF procedures pre-implantation genetic diagnosis (PGD) allows for genetic profiling of embryos prior to replacement. Most PGD procedures during IVF are performed to select chromosomal...
Synthesis and assembly of DNA powerfully enables reverse genetics-based approaches to scientific discovery. I'll present recent and unpublished work on genome refactoring and redesign, focusi...
The goal of personalized medicine is to customize healthcare to the individual patient. Pharmacogenomics, the analysis of how a patient's genetic makeup affects the individual's response to c...
The human species is particularly prone to chromosome segregation errors during maternal meiosis in the egg and during post zygotic mitosis in the preimplantation embryo. In fact, aneuploidy...
Increasingly genome sequence knowledge is unraveling the complexity of rare Mendelian disorders offering hope for our children's medical care through better disease diagnosis and ultimately p...
In addition to the exciting promise that genome sequencing holds, concerns are also often described. These concerns relate to: privacy/confidentiality of findings; impact of findings on insur...
Whenever there is cell death, apoptotic cell free DNA fragments appear in the circulation of the host. These fragments, typically 145-160 base pairs in size, represent a minute fraction of to...
Sharing sequencing datasets without identifiers has become a common practice in genomics. We recently showed that some datasets can be fully re-identified by using entirely free, publicly acc...
Massively parallel sequencing technology has proven to enable the identification of driver genetic alterations in patients' tumors that may be suppressed by targeted therapies. Through retros...
Personalized medicine is expected to benefit from the combination of genomic information with the global monitoring of molecular components and physiological states. To ascertain whether this...
Our ability to view and alter biology is progressing at an exponential pace -- faster even than electronics. Next generation sequencing can be used to assess inherited, environmental and epi-...
Genetic testing is becoming a widespread practice and with human genome fully sequenced we want to develop best methods to do it. Single gene or single mutation screening is pretty much becom...
The widespread adoption of precision medicine in oncology requires: a compendium of therapies targeting the genetic vulnerabilities of cancer; the diagnostic tools capable of generating a pr...
The effective implementation of personalised cancer therapeutic regimens depends on the successful identification and translation of informative biomarkers to aid clinical decision making. Th...
Survival rates for early stage non-small cell lung cancer (NSCLC) remain unacceptably low compared to other common solid tumors. This mortality reflects a weakness in conventional staging, a...
It is now appreciated that breast cancer is not a single disease, but instead is a spectrum of tumor subtypes with distinct cellular origins, somatic changes and somewhat predictable clinical...
Developments in DNA sequencing technology have provided a unique opportunity for diagnosis and discovery of genetic alterations for rare diseases. Partnering with 20 academic centers in the U...
The use of ultrahigh throughput diagnostic tests that determine genetic sequence variation to guide patient care is rapidly expanding, fueled by the enormous growth in sequencing platform dev...
The role of the human genome in normal and patho-biology is crucial. Applied in cancer care and in a variety of unknown disorder settings, it can provide key insights and crucial diagnostic/p...
Since the introduction of second-generation DNS sequencing technologies in 2007, the cost of genome sequencing has been consistently by 33% per quarter, with the $1000 genome arriving in 2012...
Personalized medicine is transforming biomedical research and healthcare service delivery. Disease definition, diagnosis, treatment, and prevention are being fundamentally altered by the capa...
MicroRNAs are short non-coding cellular regulators of gene expression. Each microRNA controls the expression of a large set of genes, and microRNAs collectively, may regulate more than half o...
It is widely accepted that approximately 85% of known disease-causing DNA variants affect the exons and splice junctions, which is about 1% of the whole genome. As a result, Clinical Exome Se...
The rapid advancements in next generation sequencing have served the research market very well, delivering more and more sequence for less and less money. While these advancements are still b...
During IVF procedures pre-implantation genetic diagnosis (PGD) allows for genetic profiling of embryos prior to replacement. Most PGD procedures during IVF are performed to select chromosomal...
Synthesis and assembly of DNA powerfully enables reverse genetics-based approaches to scientific discovery. I'll present recent and unpublished work on genome refactoring and redesign, focusi...
The goal of personalized medicine is to customize healthcare to the individual patient. Pharmacogenomics, the analysis of how a patient's genetic makeup affects the individual's response to c...
The human species is particularly prone to chromosome segregation errors during maternal meiosis in the egg and during post zygotic mitosis in the preimplantation embryo. In fact, aneuploidy...
Increasingly genome sequence knowledge is unraveling the complexity of rare Mendelian disorders offering hope for our children's medical care through better disease diagnosis and ultimately p...
In addition to the exciting promise that genome sequencing holds, concerns are also often described. These concerns relate to: privacy/confidentiality of findings; impact of findings on insur...
Whenever there is cell death, apoptotic cell free DNA fragments appear in the circulation of the host. These fragments, typically 145-160 base pairs in size, represent a minute fraction of to...
Sharing sequencing datasets without identifiers has become a common practice in genomics. We recently showed that some datasets can be fully re-identified by using entirely free, publicly acc...
Massively parallel sequencing technology has proven to enable the identification of driver genetic alterations in patients' tumors that may be suppressed by targeted therapies. Through retros...
Personalized medicine is expected to benefit from the combination of genomic information with the global monitoring of molecular components and physiological states. To ascertain whether this...
Our ability to view and alter biology is progressing at an exponential pace -- faster even than electronics. Next generation sequencing can be used to assess inherited, environmental and epi-...
Genetic testing is becoming a widespread practice and with human genome fully sequenced we want to develop best methods to do it. Single gene or single mutation screening is pretty much becom...
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