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.
Theragen Bio. (TheragenEtex Subsidiary company) has been conducted the genome-wide research and the genome-based genetic testing services. From 2007, researchers of Theragen Bio. are collabo...
Genetic diseases are known occur due to various types of mutations in the human genome. The molecular assays to diagnose these diseases have been developed based on the type of mutation comm...
Most bladder cancer (BC) cases are non-muscle-invasive BC (NIBMC), which is rarely lethal. However, nearly one-fifth of NMIBC cases progress to muscle-invasive BC (MIBC), which shows a 5-yea...
NGS technology has grown leaps and bounds in reproductive genetics field. Infertility is on the rise and with the mushrooming of so many IVF clinics in our country and increasing number of I...
Lung cancer management has changed over the last few years with several actionable targets being recognised and mandated in the optimal management of these patients. The biomarker ordering p...
NGS is still perceived as a complex, hard to implement and validate method that requires highly experienced people. Outsourcing next-generation sequencing (NGS) testing could be an option to...
DATE: June 26, 2020 TIME: 8:00am PT Structural variants (SVs) are an important source of genetic variation in the human genome and they are involved in a multitude of human diseases as well...
Personalized medicine has beomce a paradigm in lung cancer management; ~ 25–30% of advanced lung cancer patients could benefit from a targeted therapy. Several guidelines currently end...
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...
NGS is still perceived as a complex, hard to implement and validate method that requires highly experienced people. Outsourcing next-generation sequencing (NGS) testing could be an option to...
NGS is still perceived as a complex, hard to implement and validate method that requires highly experienced people. Outsourcing next-generation sequencing (NGS) testing could be an option to...
The current standard methodology in forensic DNA typing relies on amplification of short tandem repeat (STR) markers by the polymerase chain reaction (PCR) and allele sizes (i.e., length-bas...
Learning Objectives: 1. Molecular basis of microhaplotypes 2. Informativeness and power of discrimination of microhaplotypes 3. Mixture deconvolution via microhaplotypes...
Estrogen metabolism is the ability to favorably excrete potentially toxic estrogens through urine and sweat. Impaired estrogen metabolism is associated with Endometriosis and Polycystic Ovar...
DATE: April 2, 2020 TIME: 8:00am PT, 11:00am ET Cyclins A2 and E1 regulate the cell cycle by promoting S phase entry and progression. We recently identified a hepatocellular carcinoma (HCC)...
DATE: March 31, 2020 TIME: 9:00am PT, 12:00pm ET HER2-positive breast cancer is a type of breast cancer caused by over-expression of a protein called human epidermal growth factor receptor 2...
DATE: March 24, 2020 TIME: 11:00am PT, 2:00pm ET While in vitro cell culture has long been used to study neurological diseases, researchers have come to the realization that 2-D systems do n...
Breast cancer is the most frequently occurring form of cancer in women. While 5-year survival rates for localized disease approach 99%, cases of advanced breast cancer have a much poorer pro...
Despite FDA-approved vaccines and antivirals, seasonal and pandemic influenza remains a serious threat associated with substantial morbidity and mortality. The present modalities and vaccine...
Metastatic castration resistant prostate cancer (mCRPC) refractory to secondary hormonal treatments such as enzalutamide or abiraterone acetate are the most lethal of prostate cancers. In thi...
Tumor mutational burden (TMB) is an emerging biomarker that correlates with response to immunotherapeutic agents, such as checkpoint inhibitors. Recent studies indicate that a high mutation l...
Accumulation of structural variations (SVs) across the genome is a known trigger factor for oncogenesis. Structural mutations have been clearly implicated in a number of cancers, most notably...
Copy-number alterations and chromosomal translocations are widespread in cancer and frequently causing oncogenic mutations that drive tumorigenesis and therapy resistance. Despite their preva...
Theragen Bio. (TheragenEtex Subsidiary company) has been conducted the genome-wide research and the genome-based genetic testing services. From 2007, researchers of Theragen Bio. are collabo...
Genetic diseases are known occur due to various types of mutations in the human genome. The molecular assays to diagnose these diseases have been developed based on the type of mutation comm...
Most bladder cancer (BC) cases are non-muscle-invasive BC (NIBMC), which is rarely lethal. However, nearly one-fifth of NMIBC cases progress to muscle-invasive BC (MIBC), which shows a 5-yea...
NGS technology has grown leaps and bounds in reproductive genetics field. Infertility is on the rise and with the mushrooming of so many IVF clinics in our country and increasing number of I...
Lung cancer management has changed over the last few years with several actionable targets being recognised and mandated in the optimal management of these patients. The biomarker ordering p...
NGS is still perceived as a complex, hard to implement and validate method that requires highly experienced people. Outsourcing next-generation sequencing (NGS) testing could be an option to...
DATE: June 26, 2020 TIME: 8:00am PT Structural variants (SVs) are an important source of genetic variation in the human genome and they are involved in a multitude of human diseases as well...
Personalized medicine has beomce a paradigm in lung cancer management; ~ 25–30% of advanced lung cancer patients could benefit from a targeted therapy. Several guidelines currently end...
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...
NGS is still perceived as a complex, hard to implement and validate method that requires highly experienced people. Outsourcing next-generation sequencing (NGS) testing could be an option to...
NGS is still perceived as a complex, hard to implement and validate method that requires highly experienced people. Outsourcing next-generation sequencing (NGS) testing could be an option to...
The current standard methodology in forensic DNA typing relies on amplification of short tandem repeat (STR) markers by the polymerase chain reaction (PCR) and allele sizes (i.e., length-bas...
Learning Objectives: 1. Molecular basis of microhaplotypes 2. Informativeness and power of discrimination of microhaplotypes 3. Mixture deconvolution via microhaplotypes...
Estrogen metabolism is the ability to favorably excrete potentially toxic estrogens through urine and sweat. Impaired estrogen metabolism is associated with Endometriosis and Polycystic Ovar...
DATE: April 2, 2020 TIME: 8:00am PT, 11:00am ET Cyclins A2 and E1 regulate the cell cycle by promoting S phase entry and progression. We recently identified a hepatocellular carcinoma (HCC)...
DATE: March 31, 2020 TIME: 9:00am PT, 12:00pm ET HER2-positive breast cancer is a type of breast cancer caused by over-expression of a protein called human epidermal growth factor receptor 2...
DATE: March 24, 2020 TIME: 11:00am PT, 2:00pm ET While in vitro cell culture has long been used to study neurological diseases, researchers have come to the realization that 2-D systems do n...
Breast cancer is the most frequently occurring form of cancer in women. While 5-year survival rates for localized disease approach 99%, cases of advanced breast cancer have a much poorer pro...
Despite FDA-approved vaccines and antivirals, seasonal and pandemic influenza remains a serious threat associated with substantial morbidity and mortality. The present modalities and vaccine...
Metastatic castration resistant prostate cancer (mCRPC) refractory to secondary hormonal treatments such as enzalutamide or abiraterone acetate are the most lethal of prostate cancers. In thi...
Tumor mutational burden (TMB) is an emerging biomarker that correlates with response to immunotherapeutic agents, such as checkpoint inhibitors. Recent studies indicate that a high mutation l...
Accumulation of structural variations (SVs) across the genome is a known trigger factor for oncogenesis. Structural mutations have been clearly implicated in a number of cancers, most notably...
Copy-number alterations and chromosomal translocations are widespread in cancer and frequently causing oncogenic mutations that drive tumorigenesis and therapy resistance. Despite their preva...
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