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Human Genetics
Human Genetics: is the study of inheritance as it exist in human beings. This field encompasses a variety of overlapping grounds including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, clinical genetics, population genetics, developmental genetics, and genetic counseling.
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AUG 22, 2013 | 12:00 PMC.E. CREDITS
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...Speaker: Pinar Bayrak-Toydemir, MD, PhDPresented at: Genetics and Genomics Virtual Event Series 2013
AUG 22, 2013 | 12:00 PM
Howard J. Jacob, Ph.D., Founding Director of the Personalized Medicine Program and Human and Molecular Genetics Center and Professor in Physiology and Pediatrics at the Medical College of W...AUG 22, 2013 | 10:00 AM
The FarGen project aims to sequence the whole genome of the entire Faroese population. Together with existing genetic records, such a comprehensive sequencing project can significantly improv...AUG 22, 2013 | 10:00 AMC.E. CREDITS
The advent of massively parallel sequencing by next generation sequencing platforms now allow genomic approaches for individualizing healthcare. Genomic sequencing data reveals variants in ge...AUG 22, 2013 | 9:00 AMC.E. CREDITS
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...AUG 22, 2013 | 9:00 AMC.E. CREDITS
There has been considerable debate in the scientific and clinical communities regarding the return of results from genome sequencing to physicians and patients. Questions surrounding which he...AUG 21, 2013 | 4:00 PMC.E. CREDITS
High throughput transcriptomic analyses have shown that most of the human genome is dynamically transcribed to produce an extraordinary range of overlapping and interlacing intronic, intergen...Speaker: John Mattick, PhD,AO, FAA, FRCPAPresented at: Genetics and Genomics Virtual Event Series 2013
AUG 21, 2013 | 3:00 PMC.E. CREDITS
The remarkable diversity we see between different cell types in the human body is governed by the specificity attained through transcriptional and epigenetic regulatory programs. Cancer is a...AUG 21, 2013 | 3:00 PM
Introduction Although the focus of the genomics community has largely been on DNA polymorphisms which affect disease risk, gene expression, especially of blood cells, has the potential to ref...AUG 21, 2013 | 2:00 PMC.E. CREDITS
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...AUG 21, 2013 | 2:00 PM
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...AUG 21, 2013 | 2:00 PMC.E. CREDITS
Aging is the major risk for diseases such as cancer, AD, type 2 Diabetes mellitus and cardiovascular disease. We hypothesize that a progress in preventing these diseases will occur only if we...AUG 21, 2013 | 1:00 PMC.E. CREDITS
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...AUG 21, 2013 | 12:00 PMC.E. CREDITS
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...AUG 21, 2013 | 12:00 PM
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...AUG 21, 2013 | 10:00 AMC.E. CREDITS
In the United States, invasive aspergillosis (IA), an invasive fungal infection of the upper respiratory tract of immune compromised patients, is usually caused by Aspergilus fumigatus, while...AUG 21, 2013 | 10:00 AMC.E. CREDITS
Medical applications of genetics and genomics have been advancing dramatically since completion of the sequencing of the human genome. The cost of DNA sequencing has plummeted, leading to the...AUG 21, 2013 | 10:00 AMC.E. CREDITS
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...AUG 21, 2013 | 9:00 AM
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...
AUG 21, 2013 | 8:00 AM
In this presentation I describe some of the approaches we are taking to identify the genetic architecture of common complex cancers with a particular focus on the etiology of lung cancer. Can...
AUG 21, 2013 | 7:00 AM
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-...
AUG 21, 2013 | 6:00 AM
A 2013 survey conducted by the Woodrow Wilson Synthetic Biology Project found that 75% of adults have heard just a little or nothing at all about synthetic biology, figures that were virtuall...
AUG 21, 2013 | 6:00 AM
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...
SEP 12, 2012 | 9:00 AM
C.E. CREDITS
 The Project (PersonalGenomes.org) enables open observation and critique of a large cohort "test-driving" comprehensive participatory personalized medicine. This is the only fully open-access...
AUG 22, 2013 | 12:00 PM
C.E. CREDITS
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...
Speaker:
Pinar Bayrak-Toydemir, MD, PhD
Presented at: Genetics and Genomics Virtual Event Series 2013
AUG 22, 2013 | 12:00 PM
Howard J. Jacob, Ph.D., Founding Director of the Personalized Medicine Program and Human and Molecular Genetics Center and Professor in Physiology and Pediatrics at the Medical College of W...
AUG 22, 2013 | 10:00 AM
The FarGen project aims to sequence the whole genome of the entire Faroese population. Together with existing genetic records, such a comprehensive sequencing project can significantly improv...
AUG 22, 2013 | 10:00 AM
C.E. CREDITS
The advent of massively parallel sequencing by next generation sequencing platforms now allow genomic approaches for individualizing healthcare. Genomic sequencing data reveals variants in ge...
AUG 22, 2013 | 9:00 AM
C.E. CREDITS
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...
AUG 22, 2013 | 9:00 AM
C.E. CREDITS
There has been considerable debate in the scientific and clinical communities regarding the return of results from genome sequencing to physicians and patients. Questions surrounding which he...
AUG 21, 2013 | 4:00 PM
C.E. CREDITS
High throughput transcriptomic analyses have shown that most of the human genome is dynamically transcribed to produce an extraordinary range of overlapping and interlacing intronic, intergen...
Speaker:
John Mattick, PhD,AO, FAA, FRCPA
Presented at: Genetics and Genomics Virtual Event Series 2013
AUG 21, 2013 | 3:00 PM
C.E. CREDITS
The remarkable diversity we see between different cell types in the human body is governed by the specificity attained through transcriptional and epigenetic regulatory programs. Cancer is a...
AUG 21, 2013 | 3:00 PM
Introduction Although the focus of the genomics community has largely been on DNA polymorphisms which affect disease risk, gene expression, especially of blood cells, has the potential to ref...
AUG 21, 2013 | 2:00 PM
C.E. CREDITS
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...
AUG 21, 2013 | 2:00 PM
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...
AUG 21, 2013 | 2:00 PM
C.E. CREDITS
Aging is the major risk for diseases such as cancer, AD, type 2 Diabetes mellitus and cardiovascular disease. We hypothesize that a progress in preventing these diseases will occur only if we...
AUG 21, 2013 | 1:00 PM
C.E. CREDITS
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...
AUG 21, 2013 | 12:00 PM
C.E. CREDITS
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...
AUG 21, 2013 | 12:00 PM
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...
AUG 21, 2013 | 10:00 AM
C.E. CREDITS
In the United States, invasive aspergillosis (IA), an invasive fungal infection of the upper respiratory tract of immune compromised patients, is usually caused by Aspergilus fumigatus, while...
AUG 21, 2013 | 10:00 AM
C.E. CREDITS
Medical applications of genetics and genomics have been advancing dramatically since completion of the sequencing of the human genome. The cost of DNA sequencing has plummeted, leading to the...
AUG 21, 2013 | 10:00 AM
C.E. CREDITS
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...
AUG 21, 2013 | 9:00 AM
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...
AUG 21, 2013 | 8:00 AM
In this presentation I describe some of the approaches we are taking to identify the genetic architecture of common complex cancers with a particular focus on the etiology of lung cancer. Can...
AUG 21, 2013 | 7:00 AM
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-...
AUG 21, 2013 | 6:00 AM
A 2013 survey conducted by the Woodrow Wilson Synthetic Biology Project found that 75% of adults have heard just a little or nothing at all about synthetic biology, figures that were virtuall...
AUG 21, 2013 | 6:00 AM
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...
SEP 12, 2012 | 9:00 AM
C.E. CREDITS
 The Project (PersonalGenomes.org) enables open observation and critique of a large cohort "test-driving" comprehensive participatory personalized medicine. This is the only fully open-access...