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Related Concept Videos

Genomics02:02

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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...
Genomic DNA in Eukaryotes00:58

Genomic DNA in Eukaryotes

Eukaryotes have large genomes compared to prokaryotes. To fit their genomes into a cell, eukaryotic DNA is packaged extraordinarily tightly inside the nucleus. To achieve this, DNA is tightly wound around proteins called histones, which are packaged into nucleosomes that are joined by linker DNA and coil into chromatin fibers. Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division.
DNA Microarrays02:34

DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...

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

Published on: April 4, 2018

Clinical genomic database.

Benjamin D Solomon1, Anh-Dao Nguyen, Kelly A Bear

  • 1Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. solomonb@mail.nih.gov

Proceedings of the National Academy of Sciences of the United States of America
|May 23, 2013
PubMed
Summary
This summary is machine-generated.

The Clinical Genomic Database (CGD) organizes genetic conditions and interventions to help clinicians interpret genomic data. This resource aids medical decision-making, especially when specific treatments are unavailable.

Keywords:
genome sequencinggenomic medicinewhole-genome sequencing

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Published on: January 16, 2019

Area of Science:

  • Genomics
  • Clinical Genetics
  • Bioinformatics

Background:

  • Human genomic sequencing is advancing rapidly, outpacing clinical data analysis capabilities.
  • Interpreting complex genomic data for patient care remains a significant challenge.

Purpose of the Study:

  • To develop a comprehensive, searchable database linking genetic conditions to clinical utility and available interventions.
  • To create a resource that supports informed medical decision-making and patient management.

Main Methods:

  • Systematic review of genetic conditions and their associated clinical interventions.
  • Construction of the Clinical Genomic Database (CGD), organizing genes by organ systems and interventions.
  • Inclusion of conditions with or without specific interventions, considering supportive care and prognostic implications.

Main Results:

  • The CGD currently contains 2,616 genes, categorized by clinical manifestations and interventions (preventive, surveillance, medical, surgical).
  • Database entries include gene symbol, conditions, inheritance patterns, affected age groups, intervention rationale, and links to external databases and PubMed.
  • The CGD incorporates genetic conditions impacting supportive care, decision-making, prognosis, and reproductive choices.

Conclusions:

  • The Clinical Genomic Database (CGD) provides a valuable resource for interpreting genomic data in clinical settings.
  • CGD facilitates evidence-based medical decisions, particularly for rare genetic disorders.
  • Regular updates and expert input will ensure CGD remains a dynamic tool for advancing genomic medicine.