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.
IIdentification of relevant mutations, determination of tumor mutational burden (TMB) and microsatellite (MS) status are paramount to precision oncology research and the Oncomine Comprehensi...
Identification of actionable mutations, determination of tumor mutational burden (TMB) and microsatellite (MS) status are paramount to precision oncology and the Oncomine Comprehensive Assay...
During the presentation, Dr. Hernandez-Losa will describe the experience in the Department of Pathology using NGS with S5-xl in different translational projects in solid tumors. Additionally...
During the presentation, Dr. Hernandez-Losa will describe the experience in the Department of Pathology using NGS with S5-xl in different translational projects in solid tumors. Additionally...
Myeloid neoplasms are a group of heterogeneus disorders originating from the neoplastic transformation of a pluripotent hematopoietic progenitor cell. Following the acquisition of somatic mu...
Myeloid neoplasms are a group of heterogeneus disorders originating from the neoplastic transformation of a pluripotent hematopoietic progenitor cell. Following the acquisition of somatic mu...
Comprehensive genomic profiling in clinical research studies helps to detect clinically relevant cancer driver mutations using low amount of tumor tissues within several days. Recent studies...
Comprehensive genomic profiling in clinical studies helps to detect clinically relevant cancer driver mutations using low amount of tumor tissues within several days. Recent studies have sho...
Multiplex detection of oncogenic mutations using LNA-based assays on the QIAcuity digital PCR system Digital PCR (dPCR) enables specific and sensitive detection of genetic alterations in onc...
Mutations in the epidermal growth factor receptor gene (EGFR) and the known Kirsten rat sarcoma viral oncogene (KRAS) are significant drivers in the development of non-small-cell lung cancer...
Tumor phenotypes are dictated not only by the neoplastic cell component, but also by the tumor microenvironment (TME), which is inherently immuno-suppressive, is equipped to hamper effector...
Activating mutations in PIK3CA are frequent in human breast cancer, and phosphoinositide 3-kinase alpha (PI3Kα) inhibitors have been approved for therapy. To characterize determinants...
Genome editing with an expanded CRISPR-Cas tool set increases the opportunity to make intentional, targeted changes in the genome. Furthermore, improved specificity of genome editing and abi...
Cas9 based therapeutics have the potential to revolutionize the treatment of genetic diseases. However, safe and effective methods for delivering Cas9 protein, gRNA and donor DNA need to be...
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...
Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) is the cause of Coronavirus Disease 2019 (COVID-19) and responsible for the current pandemic. Here, we present an in-depth study...
Enigmatic and often vilified, viruses are now known to play important and possibly indispensable roles in the biology and ecology of cellular organisms. Evidence of viral impacts are everywh...
The selective pressure placed on the resident microbiota by local changes in the host environment – DNA damage, chronic inflammation, metabolic shifts, barrier damage, reduced immunosu...
The recent outbreak of SARS-CoV-2 underscores the need for understanding the evolutionary processes that drive the emergence and adaptation of zoonotic viruses in humans. Here, we show that...
The receptor binding domain (RBD) of the SARS-CoV-2 spike glycoprotein mediates viral attachment to ACE2 receptor, and is a major determinant of host range and a dominant target of neutraliz...
Seasonal and pandemic influenza virus infections can cause significant disease worldwide. Current vaccines only provide limited, short-lived protection, and antigenic drift/shift in the hema...
ABSTRACT DATE: July 28, 2020 TIME: 10:00am PDT, 1:00pm EDT Adaptive laboratory evolution (ALE) of microbial strains is a powerful approach in biotechnology to generate chemical tolerance and...
DATE: July 16, 2020 TIME: 10:00 am PDT This seminar reviews clinical utility of adopting rapid IDH1/2 testing in both hematological and solid tumors and describes the adjusted workflow devel...
ABSTRACT DATE: July 14, 2020 TIME: 7:00 am PDT, 10:00 am EDT This is the second topic in the webinar series on ‘ Predictive Genomics for Population & Personalized Health ’. C...
IIdentification of relevant mutations, determination of tumor mutational burden (TMB) and microsatellite (MS) status are paramount to precision oncology research and the Oncomine Comprehensi...
Identification of actionable mutations, determination of tumor mutational burden (TMB) and microsatellite (MS) status are paramount to precision oncology and the Oncomine Comprehensive Assay...
During the presentation, Dr. Hernandez-Losa will describe the experience in the Department of Pathology using NGS with S5-xl in different translational projects in solid tumors. Additionally...
During the presentation, Dr. Hernandez-Losa will describe the experience in the Department of Pathology using NGS with S5-xl in different translational projects in solid tumors. Additionally...
Myeloid neoplasms are a group of heterogeneus disorders originating from the neoplastic transformation of a pluripotent hematopoietic progenitor cell. Following the acquisition of somatic mu...
Myeloid neoplasms are a group of heterogeneus disorders originating from the neoplastic transformation of a pluripotent hematopoietic progenitor cell. Following the acquisition of somatic mu...
Comprehensive genomic profiling in clinical research studies helps to detect clinically relevant cancer driver mutations using low amount of tumor tissues within several days. Recent studies...
Comprehensive genomic profiling in clinical studies helps to detect clinically relevant cancer driver mutations using low amount of tumor tissues within several days. Recent studies have sho...
Multiplex detection of oncogenic mutations using LNA-based assays on the QIAcuity digital PCR system Digital PCR (dPCR) enables specific and sensitive detection of genetic alterations in onc...
Mutations in the epidermal growth factor receptor gene (EGFR) and the known Kirsten rat sarcoma viral oncogene (KRAS) are significant drivers in the development of non-small-cell lung cancer...
Tumor phenotypes are dictated not only by the neoplastic cell component, but also by the tumor microenvironment (TME), which is inherently immuno-suppressive, is equipped to hamper effector...
Activating mutations in PIK3CA are frequent in human breast cancer, and phosphoinositide 3-kinase alpha (PI3Kα) inhibitors have been approved for therapy. To characterize determinants...
Genome editing with an expanded CRISPR-Cas tool set increases the opportunity to make intentional, targeted changes in the genome. Furthermore, improved specificity of genome editing and abi...
Cas9 based therapeutics have the potential to revolutionize the treatment of genetic diseases. However, safe and effective methods for delivering Cas9 protein, gRNA and donor DNA need to be...
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...
Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) is the cause of Coronavirus Disease 2019 (COVID-19) and responsible for the current pandemic. Here, we present an in-depth study...
Enigmatic and often vilified, viruses are now known to play important and possibly indispensable roles in the biology and ecology of cellular organisms. Evidence of viral impacts are everywh...
The selective pressure placed on the resident microbiota by local changes in the host environment – DNA damage, chronic inflammation, metabolic shifts, barrier damage, reduced immunosu...
The recent outbreak of SARS-CoV-2 underscores the need for understanding the evolutionary processes that drive the emergence and adaptation of zoonotic viruses in humans. Here, we show that...
The receptor binding domain (RBD) of the SARS-CoV-2 spike glycoprotein mediates viral attachment to ACE2 receptor, and is a major determinant of host range and a dominant target of neutraliz...
Seasonal and pandemic influenza virus infections can cause significant disease worldwide. Current vaccines only provide limited, short-lived protection, and antigenic drift/shift in the hema...
ABSTRACT DATE: July 28, 2020 TIME: 10:00am PDT, 1:00pm EDT Adaptive laboratory evolution (ALE) of microbial strains is a powerful approach in biotechnology to generate chemical tolerance and...
DATE: July 16, 2020 TIME: 10:00 am PDT This seminar reviews clinical utility of adopting rapid IDH1/2 testing in both hematological and solid tumors and describes the adjusted workflow devel...
ABSTRACT DATE: July 14, 2020 TIME: 7:00 am PDT, 10:00 am EDT This is the second topic in the webinar series on ‘ Predictive Genomics for Population & Personalized Health ’. C...
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