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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

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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
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Genomics02:02

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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...
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Genome-wide Association Studies-GWAS01:11

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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.
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Single Nucleotide Polymorphisms-SNPs01:05

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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,...
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DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
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Related Experiment Video

Updated: Aug 15, 2025

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

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Rapid genome sequencing identifies novel variants in complement factor I.

Katherine M Rodriguez1,2,3, Jordan Vaught1,4, Michelle Dilley1,5

  • 1Rady Children's Hospital, San Diego, California 92123, USA.

Cold Spring Harbor Molecular Case Studies
|December 28, 2022
PubMed
Summary
This summary is machine-generated.

Complement Factor I Deficiency (CFID) is rare, increasing risk for severe pneumococcal infections. This study identifies novel genetic variants in a patient with CFID presenting with respiratory failure.

Keywords:
ST segment elevationatelectasiscoughelevated C-reactive protein levelelevated serum transaminases during infectionsexudative pleural effusionhyponatremialymphopeniamyocarditisnauseanormocytic anemiarespiratory failuresinus tachycardiatension-type headacheunexplained fevers

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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Area of Science:

  • Immunology
  • Genetics
  • Infectious Diseases

Background:

  • Complement Factor I Deficiency (CFID) is a rare primary immunodeficiency.
  • CFID results from insufficient levels of complement factor I (CFI), a serine protease.
  • Patients with CFID are highly susceptible to severe infections, particularly from Streptococcus pneumoniae, often presenting in infancy.

Purpose of the Study:

  • To describe a case of a previously healthy adolescent male presenting with severe pneumococcal pneumonia and systemic inflammatory response.
  • To identify the genetic cause of Complement Factor I Deficiency in this patient.
  • To characterize novel variants within the CFI gene.

Main Methods:

  • Clinical presentation of an adolescent male with respiratory failure due to pneumococcal pneumonia.
  • Utilized rapid genome sequencing (rGS) for genetic analysis.
  • Identified and characterized compound heterozygous variants in the CFI gene.

Main Results:

  • The proband was diagnosed with Complement Factor I Deficiency.
  • Genetic analysis revealed compound heterozygous variants in the CFI gene.
  • A novel maternally inherited likely pathogenic variant (c.1646del; p.Asn549ThrfsTer25) and a paternally inherited likely pathogenic deletion (Chr 4:110685580-110692197del) were identified.

Conclusions:

  • This case highlights a rare presentation of CFID in adolescence.
  • Rapid genome sequencing is effective in diagnosing rare immunodeficiencies.
  • The identified novel CFI variants contribute to understanding the genetic basis of CFID.