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.
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Date: May 5, 2022 Time: 8:00am (PDT), 11:00pm (EDT), 5:00pm (CET) Despite incredible advances in genomics, the NGS data interpretation workflow for hereditary diseases remains challenging...
Since the initial COVID-19 outbreak, the SARS-CoV-2 virus has mutated, resulting in a range of variants. SARS-CoV-2 variants of concern, exemplified most recently with Omicron, need to be de...
During the first year of the SARS-CoV-2 pandemic, international monitoring of SARS-CoV-2 genomic RNA revealed that the virus accumulated roughly 2 mutations per month. Nonetheless, one nonsy...
Date: April 27, 2022 Time: 9:00am (PDT), 12:00pm (EDT), 6:00pm (CEST) Abnormal accumulation of misfolded tau protein in filaments characterizes more than 20 neurodegenerative diseases—c...
Objective : Evaluation of EDTA-gel blood collection tubes from remote locations for NIPS (Non-invasive prenatal testing). Design: Paired comparisons Population: 61 pregnant women from Britis...
Date: April 14, 2022 Time: 8:00am (PDT), 11:00am (EDT), 5:00pm (CET) Across oncology applications, from research to molecular testing and pharmaceutical development, the ability to identify...
Date: March 24, 2022 Time: 8:00am (PST), 11:00am (EST), 4:00pm (GMT) Key to precision oncology is the development of expert databases that organize and standardize information on cancer-rel...
Date: March 17, 2022 Time: 9:00am (PST), 12:00pm (EST), 5:00pm (CEST) Since the initial COVID-19 outbreak, the SARS-CoV-2 v...
Date: March 09, 2021 Time: 08:00am (PST), 11:00am (EST), 5:00pm (CEST) Bioengineering technologies hold enormous potential to solve many of our world’s pressing problems. However, they...
Princess Margaret Living Biobank (PMLB) is a repository for patient-derived organoid models. PMLB has generated over200 organoid models from lung, pancreas, colon, ovary, esophageal and brea...
Date: February 09, 2021 Time: 09:00am (PST), 12:00pm (EST) In this webinar we introduce quantitative amplicon sequencing (QASeq): a highly-sensitive and robust NGS-based method for the detec...
Date: February 01, 2021 Time: 08:00am (PST), 11:00am (EST) The Design–Generate–Test–Learn (DGTL) cycle represents an efficient approach to biological engineering, from sing...
Date: January 20, 2022 Time: 11:00am (PST), 2:00pm (EST), 8:00pm (CEST) The Human Gene Mutation Database (HGMD) is a one-of-a-kind resource containing data for hundreds of thousands of varia...
Date: December 07, 2021 Time: 10:00am (PST) The RNAscope™ technology allows high sensitivity and spatial resolution providing pivotal single-cell information to gain better insights in...
Date: December 1, 2021 Time: 12:00pm (PST), 3:00pm (EST) Explore the adaptability of your KingFisher instrument. Discover all the ways your Thermo Scientific™ KingFisher™ system...
The Human Gene Mutation Database (HGMD) is a one-of-a-kind resource containing data for hundreds of thousands of variants within the context of associated phenotype(s). Specifically, HGMD pr...
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