Long-Read Sequencing, also known as third-generation sequencing, is a class of DNA sequencing methods which are currently under active development. In contrast to other existing methods of DNA sequencing the process of long-read sequencing does not require breaking long strands of DNA, but simply reading the nucleotide sequences at a molecule level.
Date: March 08, 2023 Time: 9:00am (PST), 12:00pm (EST), 6:00pm (CET) An unbiased characterization of the human microbiome is crucial to a more complete understanding of microbial effect on h...
Date: December 13, 2022 Time: 8:00am (PST), 11:00am (EST), 5:00pm (CET) Understanding the diversity of repair outcomes after introducing a genomic cut is essential for realizing the therapeu...
Date: October 04, 2022 Time: 9:00am (PDT), 12:00pm (EDT), 6:00pm (CEST) The Miro Canvas is a new platform which enables full walkaway automation of complex next generation sequencing (NGS) s...
The CYP2D6 enzyme metabolizes approximately 25% of commonly used pharmaceuticals and is of intense pharmacogenetic interest. Polymorphisms in CYP2D6 can alter an individual’s response...
In this session we will use a set of reads enriched for viral sequences and sequences from wastewater treatment plants. Specifically the aim is to assemble whole SARS-CoV-2 genomes from such...
Over 40 tandem repeats undergo expansion events that lead to neurological disease. This number is likely an underestimate as many repeats are difficult to amplify using existing short read s...
Date: June 22, 2021 Time: 10:00am (PDT), 1:00pm (EDT) Antimicrobial resistance (AMR) has emerged as one of the principal public health problems of the 21st century. It threatens the effectiv...
Date: June 8, 2021 Time: 10:00am (PDT), 1:00pm (EDT) Most deaths from ovarian and endometrial cancer are due to high-grade subtypes that metastasize before they are detectable by available...
Interest in cell and gene therapy-based disease prevention and treatment has increased rapidly over the last few decades, however there are still many hurdles to overcome and further progres...
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...
Learning Objectives: 1. Demonstrate the utility of long-read RNA-sequencing in studying alternative isoforms 2. Define the long-Split-seq approach to profiling the transcriptomes of single-c...
Somatic mutations that arise during development are increasingly recognized as contributors to neurodevelopmental disease. One challenge has been to determine how mosaic mutations contribute...
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...
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-...
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...
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)...
Nanopore sequencing has enormous potential in epigenetic applications; unlike traditional sequencing-by-synthesis technologies, it can distinguish covalently modified nucleotides directly th...
The Genome in a Bottle Consortium has published benchmarks for variant calling, but some challenging medically-relevant genes have been partially or fully excluded due to mapping challenges,...
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%...
This drug development program is designed to create a family of broad-spectrum, pan-coronaviral drugs that respectively inhibit multiple key enzymes required for viral replication. By target...
Date: October 28, 2020 Time: 7:00am (PDT), 10:00am (EDT) Although chemotherapy remains the mainstay of systemic therapy, a large number of cancer patients fail to respond to it. About half o...
Changes in transcriptional regulation are thought to be one of the key drivers of carcinogenesis. Although next-generation sequencer revolutionized transcriptome analysis, there are limitati...
An extensively debated concern about CRISPR-Cas9 genome editing is that unspecific guide RNA (gRNA) binding may induce off-target mutations. However, accurate prediction of CRISPR-Cas9 off-t...
Date: March 08, 2023 Time: 9:00am (PST), 12:00pm (EST), 6:00pm (CET) An unbiased characterization of the human microbiome is crucial to a more complete understanding of microbial effect on h...
Date: December 13, 2022 Time: 8:00am (PST), 11:00am (EST), 5:00pm (CET) Understanding the diversity of repair outcomes after introducing a genomic cut is essential for realizing the therapeu...
Date: October 04, 2022 Time: 9:00am (PDT), 12:00pm (EDT), 6:00pm (CEST) The Miro Canvas is a new platform which enables full walkaway automation of complex next generation sequencing (NGS) s...
The CYP2D6 enzyme metabolizes approximately 25% of commonly used pharmaceuticals and is of intense pharmacogenetic interest. Polymorphisms in CYP2D6 can alter an individual’s response...
In this session we will use a set of reads enriched for viral sequences and sequences from wastewater treatment plants. Specifically the aim is to assemble whole SARS-CoV-2 genomes from such...
Over 40 tandem repeats undergo expansion events that lead to neurological disease. This number is likely an underestimate as many repeats are difficult to amplify using existing short read s...
Date: June 22, 2021 Time: 10:00am (PDT), 1:00pm (EDT) Antimicrobial resistance (AMR) has emerged as one of the principal public health problems of the 21st century. It threatens the effectiv...
Date: June 8, 2021 Time: 10:00am (PDT), 1:00pm (EDT) Most deaths from ovarian and endometrial cancer are due to high-grade subtypes that metastasize before they are detectable by available...
Interest in cell and gene therapy-based disease prevention and treatment has increased rapidly over the last few decades, however there are still many hurdles to overcome and further progres...
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...
Learning Objectives: 1. Demonstrate the utility of long-read RNA-sequencing in studying alternative isoforms 2. Define the long-Split-seq approach to profiling the transcriptomes of single-c...
Somatic mutations that arise during development are increasingly recognized as contributors to neurodevelopmental disease. One challenge has been to determine how mosaic mutations contribute...
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...
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-...
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...
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)...
Nanopore sequencing has enormous potential in epigenetic applications; unlike traditional sequencing-by-synthesis technologies, it can distinguish covalently modified nucleotides directly th...
The Genome in a Bottle Consortium has published benchmarks for variant calling, but some challenging medically-relevant genes have been partially or fully excluded due to mapping challenges,...
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%...
This drug development program is designed to create a family of broad-spectrum, pan-coronaviral drugs that respectively inhibit multiple key enzymes required for viral replication. By target...
Date: October 28, 2020 Time: 7:00am (PDT), 10:00am (EDT) Although chemotherapy remains the mainstay of systemic therapy, a large number of cancer patients fail to respond to it. About half o...
Changes in transcriptional regulation are thought to be one of the key drivers of carcinogenesis. Although next-generation sequencer revolutionized transcriptome analysis, there are limitati...
An extensively debated concern about CRISPR-Cas9 genome editing is that unspecific guide RNA (gRNA) binding may induce off-target mutations. However, accurate prediction of CRISPR-Cas9 off-t...
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