Gene mutations describe a change in the DNA sequence that makes up a gene. There are many kinds of gene mutations which have been characterized by scientists. The main categories of mutations are germline mutations, which occur in the gametes (haploid male or female reproductive cells), and somatic mutations, occur in all other cell types. Chromosomal alterations are mutations that change the structure of chromosomes in a variety of ways such as deletion, duplication, insertion, translocation, or inversion of a section of the chromosome. Point mutations include a single nucleotide change within the DNA and these mutations can be classified as silent (the mutation codes for the same amino acid so the change has no effect), missense (the mutation codes for an alternative amino acid), and nonsense (the mutation codes for a premature stop codon). Frameshift mutations occur when the addition or deletion of nucleotide(s) alter the reading frame of the sequence altering all subsequent amino acid coding.
In this preliminary experiment, we used spatial transcriptomics to assess the gene expression profiles of microglia or astrocytes in relation to their distance from plaques. We compared 18-m...
Date: August 25, 2021 Time: 8:00am (PDT), 11:00am (EDT) Heterologous protein production is an indispensable tool in biotechnology and biopharma for manufacturing enzymes, protein therapeutic...
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: July 28, 2021 Time: 7:00am PDT Bacterial persistence is a potential cause of antibiotic therapy failure. Antibiotic-tolerant persisters originate from phenotypic differentiation within...
Genome editing technologies have enabled the precise manipulation of DNA sequences at targeted sites to achieve therapeutic effects. Engineered endonucleases like CRISPR-Cas9 institute site-...
T-cells targeting shared oncogenic mutations can induce durable tumor regression in epithelial cancer patients. Such T cells can be detected in tumor-infiltrating lymphocytes and peripheral...
Date: June 29, 2021 Time: 08:00am PDT As the SARS-CoV-2 virus that causes COVID-19 keeps mutating, there is a growing need to sequence the viral genome from many COVID-19-positive samples to...
Date: June 24, 2021 Time: 9:00am PDT Currently, there are insufficient therapies to fully eradicate human cancer or predict who it will strike. Rational-drug design based on structural insi...
Date: June 16, 2021 Time: 7:00am (PDT), 10:00am (EDT) Non-small cell lung cancer (NSCLC) has become an important example of precision medicine among solid tumor malignancies. Next-generation...
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...
Rhabdomyosarcoma (RMS) is a soft tissue cancer commonly arising in muscle and is the most common soft tissue cancer in children. Patients with metastatic RMS have a poor prognosis that has n...
Date: May 18, 2021 Time: 7:00am PDT, 10:00am EDT Proteins encoded by mutant genes in cancers can be processed and presented on tumor cell surface by human leukocyte antigen (HLA) molecules,...
Comprehensive genomic profiling (CGP) is advancing precision oncology research through simultaneous analysis of multiple biomarkers in a single next-generation sequencing (NGS) assay. In thi...
Next-generation sequencing is transforming scientific research and testing. Thanks to large-scale cancer projects (e.g. The Cancer Genome Atlas - TCGA), the accumulated knowledge is now used...
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...
Laboratory implementation of clinical genomics in children requires customization of analytical tools tailored to profile the divergent mutational landscape in childhood tumors. The relative...
Somatic mutations that arise during development are increasingly recognized as contributors to neurodevelopmental disease. One challenge has been to determine how mosaic mutations contribute...
The COVID19 pandemic continues to be a major epidemiological challenge across the globe. Part of the challenge, often seen with viruses, is that the nucleic acid genome quickly mutates, prod...
Despite a continuous decline of corona virus cases, the broad rollout of multiple vaccines, and the start of a return to normalcy, concerns of SARS-CoV-2 outbreaks continue to linger on the...
The adeno-associated virus (AAV) has evolved overlapping genes to maximize its genome use, as with the recently-discovered ORF in the cap gene which encodes a membrane-associated accessory p...
Date: February 24, 2021 Time: 7:00am (PST) Nucleotide variants can cause functional changes by altering protein–RNA binding in various ways that are not easy to predict. This can affec...
Organoids are emerging tools to study homeostatic function and disease of human organs. This technology has now for the first time been extended to reptiles by establishing cultures of the s...
Date: January 26, 2021 Time: 9:00am (PST), 12:00pm (EST) Over the past years, CRISPR/Cas genome editing has quickly become the method of choice for genetic manipulation, owing to its ease-of...
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...
In this preliminary experiment, we used spatial transcriptomics to assess the gene expression profiles of microglia or astrocytes in relation to their distance from plaques. We compared 18-m...
Date: August 25, 2021 Time: 8:00am (PDT), 11:00am (EDT) Heterologous protein production is an indispensable tool in biotechnology and biopharma for manufacturing enzymes, protein therapeutic...
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: July 28, 2021 Time: 7:00am PDT Bacterial persistence is a potential cause of antibiotic therapy failure. Antibiotic-tolerant persisters originate from phenotypic differentiation within...
Genome editing technologies have enabled the precise manipulation of DNA sequences at targeted sites to achieve therapeutic effects. Engineered endonucleases like CRISPR-Cas9 institute site-...
T-cells targeting shared oncogenic mutations can induce durable tumor regression in epithelial cancer patients. Such T cells can be detected in tumor-infiltrating lymphocytes and peripheral...
Date: June 29, 2021 Time: 08:00am PDT As the SARS-CoV-2 virus that causes COVID-19 keeps mutating, there is a growing need to sequence the viral genome from many COVID-19-positive samples to...
Date: June 24, 2021 Time: 9:00am PDT Currently, there are insufficient therapies to fully eradicate human cancer or predict who it will strike. Rational-drug design based on structural insi...
Date: June 16, 2021 Time: 7:00am (PDT), 10:00am (EDT) Non-small cell lung cancer (NSCLC) has become an important example of precision medicine among solid tumor malignancies. Next-generation...
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...
Rhabdomyosarcoma (RMS) is a soft tissue cancer commonly arising in muscle and is the most common soft tissue cancer in children. Patients with metastatic RMS have a poor prognosis that has n...
Date: May 18, 2021 Time: 7:00am PDT, 10:00am EDT Proteins encoded by mutant genes in cancers can be processed and presented on tumor cell surface by human leukocyte antigen (HLA) molecules,...
Comprehensive genomic profiling (CGP) is advancing precision oncology research through simultaneous analysis of multiple biomarkers in a single next-generation sequencing (NGS) assay. In thi...
Next-generation sequencing is transforming scientific research and testing. Thanks to large-scale cancer projects (e.g. The Cancer Genome Atlas - TCGA), the accumulated knowledge is now used...
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...
Laboratory implementation of clinical genomics in children requires customization of analytical tools tailored to profile the divergent mutational landscape in childhood tumors. The relative...
Somatic mutations that arise during development are increasingly recognized as contributors to neurodevelopmental disease. One challenge has been to determine how mosaic mutations contribute...
The COVID19 pandemic continues to be a major epidemiological challenge across the globe. Part of the challenge, often seen with viruses, is that the nucleic acid genome quickly mutates, prod...
Despite a continuous decline of corona virus cases, the broad rollout of multiple vaccines, and the start of a return to normalcy, concerns of SARS-CoV-2 outbreaks continue to linger on the...
The adeno-associated virus (AAV) has evolved overlapping genes to maximize its genome use, as with the recently-discovered ORF in the cap gene which encodes a membrane-associated accessory p...
Date: February 24, 2021 Time: 7:00am (PST) Nucleotide variants can cause functional changes by altering protein–RNA binding in various ways that are not easy to predict. This can affec...
Organoids are emerging tools to study homeostatic function and disease of human organs. This technology has now for the first time been extended to reptiles by establishing cultures of the s...
Date: January 26, 2021 Time: 9:00am (PST), 12:00pm (EST) Over the past years, CRISPR/Cas genome editing has quickly become the method of choice for genetic manipulation, owing to its ease-of...
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...
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