Genetic variants define a gene that has encountered a permanent change in its DNA sequence. Some, but not all, genetic variants result in a disease. Genetic variants can be inherited or can develop overtime.
Next-generation sequencing is expected to take molecular diagnostics to the next level with the capability to perform deep analysis of genetic information that leads to targeted therapies per...
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...
Clinical whole genome sequencing (cWGS) is rapidly gaining acceptance as cost is decreasing and success rates in identifying disease-causing variants are increasing. While the application of...
Psychiatric disorders are among the leading causes of disability worldwide. One fifth of the population will suffer from a psychiatric disorder in their lifetime. Antipsychotic and antidepres...
The starting point for an interaction between a patient and a clinician is almost always a set of clinical facts (aka a phenotype). Phenotype-first medicine is the standard way in which the p...
DATE: February 7, 2017TIME: 10:00am PT, 1:00pm ETIn this webinar, Jeffrey G. Reid, PhD, Executive Director and Head of Genome Informatics at Regeneron Pharmaceuticals, will sh...
Whole genome and exome sequencing is being widely used to identify disease-causing variants in patients with hereditary and rare diseases. Discovering the true disease-causing variants often...
Despite FDA-approved vaccines and antivirals, seasonal and pandemic influenza remains a serious threat associated with substantial morbidity and mortality. The present modalities and va...
The study of human genetic neurodevelopmental disorders (NDDs) is complicated by the inaccessibility of the relevant tissue for study: it is extremely rare to obtain post-surgical brain sampl...
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...
In order to realize the benefits of personalized cancer therapy, increasing demands are placed upon clinical laboratories to provide timely, comprehensive, clinically actionable, and analytic...
Network models are an invaluable tool for integrating multiple data types and for modeling interactions between biological elements. One common question that arises, however, is what to do wi...
Wolframin is a major protein of the endoplasmic reticulum, it is expressed in most tissues and clinical data demonstrate its significant connection to diabetes mellitus. L...
Technological advances allow for the large scale sequencing of the whole human genome. Most studies have generated population-based information on human diversity using low to intermediate co...
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...
New approaches to generate high-quality representations of human genomes and transcriptomes are now becoming available. In contrast to short-read “Whole-Genome” re-sequencing meth...
Advances in DNA sequencing technology are about to transform healthcare. Since completion of the human genome reference sequence ten years ago, there has been a 1-million fold im...
It has been estimated that every human being carries ~20 rare “natural human gene knockouts”-DNA variants in protein-coding regions of the genome that partially or completely inac...
Cancer remains the second leading cause of death in the United States. Most tumors arise from a myriad of genetic changes that dysregulate cell growth and prompt survival. Ident...
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...
Genomic Medicine is an incredibly fast moving field awash in information. Successful practice requires ongoing access to authoritative and regularly-updated, yet focused resources for both pr...
This session will give examples of the types of genetic tests that are most often ordered and what those tests are generally able to tell the physician and patient. The speakers will walk thr...
Esta sesión le brindara ejemplos de estudios genéticos que son frecuentemente solicitados y que información pueden brindar al medico y al paciente.
Los conferencistas ex...
Medical genetics is a specialty of medicine that encompasses patients at all ages (prenatal, pediatric, adult), as well as all organ systems. As the genetic causes of more diseases have been ...
Next-generation sequencing is expected to take molecular diagnostics to the next level with the capability to perform deep analysis of genetic information that leads to targeted therapies per...
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...
Clinical whole genome sequencing (cWGS) is rapidly gaining acceptance as cost is decreasing and success rates in identifying disease-causing variants are increasing. While the application of...
Psychiatric disorders are among the leading causes of disability worldwide. One fifth of the population will suffer from a psychiatric disorder in their lifetime. Antipsychotic and antidepres...
The starting point for an interaction between a patient and a clinician is almost always a set of clinical facts (aka a phenotype). Phenotype-first medicine is the standard way in which the p...
DATE: February 7, 2017TIME: 10:00am PT, 1:00pm ETIn this webinar, Jeffrey G. Reid, PhD, Executive Director and Head of Genome Informatics at Regeneron Pharmaceuticals, will sh...
Whole genome and exome sequencing is being widely used to identify disease-causing variants in patients with hereditary and rare diseases. Discovering the true disease-causing variants often...
Despite FDA-approved vaccines and antivirals, seasonal and pandemic influenza remains a serious threat associated with substantial morbidity and mortality. The present modalities and va...
The study of human genetic neurodevelopmental disorders (NDDs) is complicated by the inaccessibility of the relevant tissue for study: it is extremely rare to obtain post-surgical brain sampl...
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...
In order to realize the benefits of personalized cancer therapy, increasing demands are placed upon clinical laboratories to provide timely, comprehensive, clinically actionable, and analytic...
Network models are an invaluable tool for integrating multiple data types and for modeling interactions between biological elements. One common question that arises, however, is what to do wi...
Wolframin is a major protein of the endoplasmic reticulum, it is expressed in most tissues and clinical data demonstrate its significant connection to diabetes mellitus. L...
Technological advances allow for the large scale sequencing of the whole human genome. Most studies have generated population-based information on human diversity using low to intermediate co...
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...
New approaches to generate high-quality representations of human genomes and transcriptomes are now becoming available. In contrast to short-read “Whole-Genome” re-sequencing meth...
Advances in DNA sequencing technology are about to transform healthcare. Since completion of the human genome reference sequence ten years ago, there has been a 1-million fold im...
It has been estimated that every human being carries ~20 rare “natural human gene knockouts”-DNA variants in protein-coding regions of the genome that partially or completely inac...
Cancer remains the second leading cause of death in the United States. Most tumors arise from a myriad of genetic changes that dysregulate cell growth and prompt survival. Ident...
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...
Genomic Medicine is an incredibly fast moving field awash in information. Successful practice requires ongoing access to authoritative and regularly-updated, yet focused resources for both pr...
This session will give examples of the types of genetic tests that are most often ordered and what those tests are generally able to tell the physician and patient. The speakers will walk thr...
Esta sesión le brindara ejemplos de estudios genéticos que son frecuentemente solicitados y que información pueden brindar al medico y al paciente.
Los conferencistas ex...
Medical genetics is a specialty of medicine that encompasses patients at all ages (prenatal, pediatric, adult), as well as all organ systems. As the genetic causes of more diseases have been ...
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