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Related Concept Videos

Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

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Published on: June 15, 2011

Exome sequencing and genetic testing for MODY.

Stefan Johansson1, Henrik Irgens, Kishan K Chudasama

  • 1Department of Clinical Medicine, University of Bergen, Bergen, Norway.

Plos One
|June 5, 2012
PubMed
Summary

Exome sequencing aids in diagnosing monogenic diabetes (MODY) when standard tests fail. This advanced genetic testing identified pathogenic variants in some patients, improving molecular diagnosis for rare diabetes types.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Area of Science:

  • Genetics
  • Molecular Biology
  • Endocrinology

Background:

  • Monogenic diabetes diagnosis is crucial for patient care.
  • Genetic and clinical heterogeneity of diabetes necessitates advanced diagnostic approaches.
  • Exome sequencing offers potential for diagnosing diabetes when standard Sanger sequencing is inconclusive.

Purpose of the Study:

  • To evaluate exome sequencing's effectiveness for molecular MODY diagnosis.
  • To assess performance in patients with prior negative conventional genetic sequencing.
  • To identify novel genetic variants associated with diabetes.

Main Methods:

  • Exome enrichment and high-throughput sequencing in nine suspected MODY patients.
  • Exclusion of common, non-coding, and synonymous variants.
  • In-depth analysis of filtered variants in 111 genes related to glucose metabolism.

Main Results:

  • Achieved 45X median exome coverage, identifying 199 rare coding variants per individual.
  • Identified 0-4 rare non-synonymous/nonsense variants in candidate genes per patient.
  • Confirmed genetic diagnosis in at least three patients via pathogenic variants in ABCC8, HNF4A, and PPARG.

Conclusions:

  • Exome sequencing enhances MODY molecular diagnostics as a supplement to Sanger sequencing.
  • Further improvements in exome sequencing coverage are needed for full diagnostic potential.
  • Novel variants in ARAP1, GLIS3, MADD, NOTCH2, and WFS1 require further investigation for their role in diabetes.