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.
As NGS panels grow, test interpretation becomes more complex and time-consuming / With the explosion of NGS data, the need for consolidated databases with reliable and transparent curation a...
Date: April 22, 2021 Time: 10:00am (CEST), 4:00pm (CST) Advancements in technologies have revolutionized the genetic landscape. Chromosomal microarray analysis (CMA) becomes a proven method...
Laboratory implementation of clinical genomics in children requires customization of analytical tools tailored to profile the divergent mutational landscape in childhood tumors. The relative...
Advanced cancer patients, individuals that have a <50% chance of 5 year-survival and have exhausted standard of care options, are often seeking for innovative therapies. These drugs may b...
Detection and/or amplification of target DNA sequences by polymerase chain reaction (PCR) is a prevalent method in molecular biology. PCR has a broad range of applications, including use in...
The SARS-CoV-2 pandemic is challenging our health care systems and has profoundly impacted our society. Due to the poor global public health response, SARS-CoV-2 has developed many variants....
Controlling the spread of the 2019 novel coronavirus SARS-CoV-2 and ensuring a return to 'normal' activities in a post-COVID world requires two complementary efforts: 1) Widespread a...
According to the American Cancer Society, in there were an estimated 110,070 new cases diagnosed and approximately 32,120 deaths from gynecologic cancers in the U.S. in 2018. Of the five mos...
As the SARS-CoV-2 continues to spread and evolve and vaccination efforts are under way, countries around the world are confronting new public health challenges due to the emergence and rapid...
COVID-19 is a severe disease that has caused >1 million deaths in under one year. As this disease is novel, the molecular and cellular underpinnings of the progressive tissue injury are p...
Bridging a deep understanding of molecular profiles with clinical information is critical to developing innovative precision medicine tools in oncology. Discovery’s recently launched S...
Structural variants (SVs) are essential in human evolution and genetic disease but remain understudied. This is especially the case for non-Caucasian ethnicities. We report, for the first ti...
The recent explosion in the sample sizes and diversity of omics assays has created exciting new opportunities for biomedical scientists. However, connecting these omics data types in an inte...
The complete assembly of each human chromosome is essential for understanding human biology and evolution. Using complementary long-read sequencing technologies, we complete the first linear...
Recently, long-read sequencing with high accuracy has become a reality. Previous technologies allowed for the detection of particular classes of genetic variation and/or have focused on pre-...
Precise diagnosis of neurodevelopmental disorders (NDDs), which often have genetic causes, is a challenging and important problem. Here we describe the results of a recent pilot study using...
We are entering into an exciting era of genomics where truly complete, high-quality assemblies of human chromosomes are available end-to-end, or from ‘telomere-to-telomere’ (T2T)...
Telomere length (TL) is widely considered a molecular/cellular hallmark of the aging process with implications for multiple diseases. While there has been success in epidemiology and genomew...
In mammals, DNA methylation is an epigenetic mark that regulates gene expression by serving as a maintainable mark whose absence marks promoters and enhancers. Recent epidemiological studies...
When SARS-CoV-2 reached the United States in late January 2020, Labcorp immediately began development of an RT-PCR test to aid in detection and diagnosis of COVID-19 in infected patients. As...
This presentation will focus on strategies for the design and validation of robust assays for the detection of SARS-CoV-2, including nucleic acid extraction, multiplexed qPCR assays, and int...
Developing an in vitro diagnostic device is often a complex and demanding process. Doing so in the midst of a pandemic and the IVD global supply chain stretched like never before, with proje...
Genetics may influence experience with cannabis and CBD. With increased access to legal cannabis and the research community expanding their focus on the medicinal uses of cannabinoids, more...
The utilization of high fidelity long read sequencing is critical for the resolution of repetitive genomes. Cannabis sativa is known to be diploid (2n=20), 70% repetitive, 64% AT rich and 1%...
As NGS panels grow, test interpretation becomes more complex and time-consuming / With the explosion of NGS data, the need for consolidated databases with reliable and transparent curation a...
Date: April 22, 2021 Time: 10:00am (CEST), 4:00pm (CST) Advancements in technologies have revolutionized the genetic landscape. Chromosomal microarray analysis (CMA) becomes a proven method...
Laboratory implementation of clinical genomics in children requires customization of analytical tools tailored to profile the divergent mutational landscape in childhood tumors. The relative...
Advanced cancer patients, individuals that have a <50% chance of 5 year-survival and have exhausted standard of care options, are often seeking for innovative therapies. These drugs may b...
Detection and/or amplification of target DNA sequences by polymerase chain reaction (PCR) is a prevalent method in molecular biology. PCR has a broad range of applications, including use in...
The SARS-CoV-2 pandemic is challenging our health care systems and has profoundly impacted our society. Due to the poor global public health response, SARS-CoV-2 has developed many variants....
Controlling the spread of the 2019 novel coronavirus SARS-CoV-2 and ensuring a return to 'normal' activities in a post-COVID world requires two complementary efforts: 1) Widespread a...
According to the American Cancer Society, in there were an estimated 110,070 new cases diagnosed and approximately 32,120 deaths from gynecologic cancers in the U.S. in 2018. Of the five mos...
As the SARS-CoV-2 continues to spread and evolve and vaccination efforts are under way, countries around the world are confronting new public health challenges due to the emergence and rapid...
COVID-19 is a severe disease that has caused >1 million deaths in under one year. As this disease is novel, the molecular and cellular underpinnings of the progressive tissue injury are p...
Bridging a deep understanding of molecular profiles with clinical information is critical to developing innovative precision medicine tools in oncology. Discovery’s recently launched S...
Structural variants (SVs) are essential in human evolution and genetic disease but remain understudied. This is especially the case for non-Caucasian ethnicities. We report, for the first ti...
The recent explosion in the sample sizes and diversity of omics assays has created exciting new opportunities for biomedical scientists. However, connecting these omics data types in an inte...
The complete assembly of each human chromosome is essential for understanding human biology and evolution. Using complementary long-read sequencing technologies, we complete the first linear...
Recently, long-read sequencing with high accuracy has become a reality. Previous technologies allowed for the detection of particular classes of genetic variation and/or have focused on pre-...
Precise diagnosis of neurodevelopmental disorders (NDDs), which often have genetic causes, is a challenging and important problem. Here we describe the results of a recent pilot study using...
We are entering into an exciting era of genomics where truly complete, high-quality assemblies of human chromosomes are available end-to-end, or from ‘telomere-to-telomere’ (T2T)...
Telomere length (TL) is widely considered a molecular/cellular hallmark of the aging process with implications for multiple diseases. While there has been success in epidemiology and genomew...
In mammals, DNA methylation is an epigenetic mark that regulates gene expression by serving as a maintainable mark whose absence marks promoters and enhancers. Recent epidemiological studies...
When SARS-CoV-2 reached the United States in late January 2020, Labcorp immediately began development of an RT-PCR test to aid in detection and diagnosis of COVID-19 in infected patients. As...
This presentation will focus on strategies for the design and validation of robust assays for the detection of SARS-CoV-2, including nucleic acid extraction, multiplexed qPCR assays, and int...
Developing an in vitro diagnostic device is often a complex and demanding process. Doing so in the midst of a pandemic and the IVD global supply chain stretched like never before, with proje...
Genetics may influence experience with cannabis and CBD. With increased access to legal cannabis and the research community expanding their focus on the medicinal uses of cannabinoids, more...
The utilization of high fidelity long read sequencing is critical for the resolution of repetitive genomes. Cannabis sativa is known to be diploid (2n=20), 70% repetitive, 64% AT rich and 1%...
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