Mendelian diseases are characterized as disorders occurring when a mutation in a single genes is inherited from one parent. These inherited mutations are known as germline mutations. Examples of Mendelian diseases include cystic fibrosis, sickle cell anemia, and Duchenne muscular dystrophy.
The combination of the wealth of genomic and phenotypic datasets to the measurement of the circulating proteome enables a snapshot of real-time biology and important results for determining...
DATE: June 26, 2020 TIME: 8:00am PT Structural variants (SVs) are an important source of genetic variation in the human genome and they are involved in a multitude of human diseases as well...
Resolving the genetics of underlying Mendelian diseases as well as host immune responses to infectious diseases is an important prerequisite for understanding their biology and for ultimate...
Insects are the largest and most diverse arthropod group. Many insect species are agricultural pests or vectors of numerous diseases. In fact, the mosquito is the deadliest animal on the eart...
The advent of precision medicine largely depends on the creation of precise and accurate predictive tools. While most late-onset diseases are moderately to highly heritable, using genetic inf...
DATE: October 25, 2017TIME: 06:00am PDT, 09:00am EDTThis is the third topic in the webinar series on ‘Sanger Sequencing & Fragment Analysis made easy’.Repetitive DNA...
DATE: June 8, 2017TIME: 10:00AM PDT, 1:00PM EDT, 7:00PM CESTAlzheimer’s Disease (AD) is the result of complex interactions between risk factors that cause pleiotropic changes in m...
Open Targets is a public-private partnership made up of four global leading institutions in the fields of pharmaceuticals, bioinformatics and genomics, GSK, EMBL-EBI, the Wellcome Trust Sange...
Boston Children’s Hospital is developing the infrastructure needed for large-scale psychiatric research and treatment discovery. The Manton Center for Orphan Disease Research and...
As next generation sequencing has lowered the price of DNA sequencing orders of magnitude below what it cost to create the first consensus human genome, the sheer diversity of human sequence...
DATE: December 14, 2016TIME: 9:00 AM PT, 12:00 PM ETMicroarrays and nucleotide sequencers have become commonplace tools in current research, yet until now, equivalent technologies for p...
Millions of individuals have been sequenced or genotyped and linked with medical records, providing an exciting opportunity for therapeutic target discovery. My lab has been using a resilienc...
Technological advances have made genomic sequencing more affordable, efficient, and available. Questions related to the implementation and effects of large-scale sequencing in healthcare have...
Recent advances in next-generation sequencing (NGS) have helped to accelerate the pace of discovery in the field of genetic disease research and testing. The ability to analyze multiple genes...
Technological advances in high throughput, low cost DNA sequencing coupled with the availability of a high quality reference assembly allow us to interrogate the genome with greater precision...
Rare disorder analysis has been facilitated by the declining cost of sequencing. Despite numerous success stories the underlying cause remains unexplained in >50% cases, emphasizing the ne...
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...
The combination of the wealth of genomic and phenotypic datasets to the measurement of the circulating proteome enables a snapshot of real-time biology and important results for determining...
DATE: June 26, 2020 TIME: 8:00am PT Structural variants (SVs) are an important source of genetic variation in the human genome and they are involved in a multitude of human diseases as well...
Resolving the genetics of underlying Mendelian diseases as well as host immune responses to infectious diseases is an important prerequisite for understanding their biology and for ultimate...
Insects are the largest and most diverse arthropod group. Many insect species are agricultural pests or vectors of numerous diseases. In fact, the mosquito is the deadliest animal on the eart...
The advent of precision medicine largely depends on the creation of precise and accurate predictive tools. While most late-onset diseases are moderately to highly heritable, using genetic inf...
DATE: October 25, 2017TIME: 06:00am PDT, 09:00am EDTThis is the third topic in the webinar series on ‘Sanger Sequencing & Fragment Analysis made easy’.Repetitive DNA...
DATE: June 8, 2017TIME: 10:00AM PDT, 1:00PM EDT, 7:00PM CESTAlzheimer’s Disease (AD) is the result of complex interactions between risk factors that cause pleiotropic changes in m...
Open Targets is a public-private partnership made up of four global leading institutions in the fields of pharmaceuticals, bioinformatics and genomics, GSK, EMBL-EBI, the Wellcome Trust Sange...
Boston Children’s Hospital is developing the infrastructure needed for large-scale psychiatric research and treatment discovery. The Manton Center for Orphan Disease Research and...
As next generation sequencing has lowered the price of DNA sequencing orders of magnitude below what it cost to create the first consensus human genome, the sheer diversity of human sequence...
DATE: December 14, 2016TIME: 9:00 AM PT, 12:00 PM ETMicroarrays and nucleotide sequencers have become commonplace tools in current research, yet until now, equivalent technologies for p...
Millions of individuals have been sequenced or genotyped and linked with medical records, providing an exciting opportunity for therapeutic target discovery. My lab has been using a resilienc...
Technological advances have made genomic sequencing more affordable, efficient, and available. Questions related to the implementation and effects of large-scale sequencing in healthcare have...
Recent advances in next-generation sequencing (NGS) have helped to accelerate the pace of discovery in the field of genetic disease research and testing. The ability to analyze multiple genes...
Technological advances in high throughput, low cost DNA sequencing coupled with the availability of a high quality reference assembly allow us to interrogate the genome with greater precision...
Rare disorder analysis has been facilitated by the declining cost of sequencing. Despite numerous success stories the underlying cause remains unexplained in >50% cases, emphasizing the ne...
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...
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