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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
Although all next-generation methods use different technologies, they all share a set of standard features....
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Sanger Sequencing01:57

Sanger Sequencing

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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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Maxam-Gilbert Sequencing01:05

Maxam-Gilbert Sequencing

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In the same year as the discovery of the Sanger sequencing method, another group of scientists, Allan Maxam and Walter Gilbert, demonstrated their chemical-cleavage method for DNA sequencing. The Maxam-Gilbert method relies on using different chemicals that can cleave the DNA sequence at specific sites, the separation of resulting DNA fragments of variable size using electrophoresis, and deciphering the DNA sequence from the resulting gel bands.
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RNA-seq03:21

RNA-seq

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RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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.
GWAS does not require the identification of the target gene involved in...
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Genome Annotation and Assembly03:36

Genome Annotation and Assembly

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The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
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Related Experiment Video

Updated: Sep 20, 2025

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
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Ultra-long Read Sequencing for Whole Genomic DNA Analysis

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Alzheimer's Disease Sequencing Project release 4 whole genome sequencing dataset.

Yuk Yee Leung1,2, Wan-Ping Lee1,2, Amanda B Kuzma1,2

  • 1Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|May 23, 2025
PubMed
Summary

The Alzheimer's Disease Sequencing Project (ADSP) released whole genome sequences from diverse populations, identifying over 435 million genetic variants. This data advances understanding of Alzheimer's disease genetics.

Keywords:
Alzheimer's diseasediversitygenetic architecturegenetics data sharinggenetics knowledgebaselinkage disequilibrium reference panelwhole genome sequencing

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Area of Science:

  • Genomics
  • Neuroscience
  • Population Genetics

Background:

  • The Alzheimer's Disease Sequencing Project (ADSP) is a national initiative to elucidate the genetic underpinnings of Alzheimer's disease and related dementias (ADRD).
  • Integration of whole genome sequencing (WGS) with diverse genetic, phenotypic, and harmonized datasets is crucial for understanding ADRD genetic architecture.

Purpose of the Study:

  • To detail the genetic architecture and quality of the Alzheimer's Disease Sequencing Project release 4 (R4) whole genome sequences.
  • To identify and characterize genetic variants, including single nucleotide polymorphisms, insertions/deletions, and structural variants, across diverse populations.

Main Methods:

  • Uniform processing of WGS data from 36,361 ADSP samples (35,014 unique participants, 45% non-European ancestry) across 17 cohorts in 14 countries.
  • Harmonization of extensive phenotypic data from 15,927 participants across 10 domains.
  • Creation of a linkage disequilibrium reference panel using unrelated Alzheimer's disease cases and controls.

Main Results:

  • Identification of 435 million genetic variants, including single nucleotide polymorphisms, insertions/deletions, and structural variants.
  • Availability of annotations and quality control data for all identified variants and samples.
  • Provision of detailed phenotypes for a significant subset of participants.

Conclusions:

  • The ADSP R4 dataset provides a comprehensive resource for studying the genetic basis of Alzheimer's disease and related dementias.
  • Publicly accessible data through the National Institute on Aging Genetics of Alzheimer's Disease Data Storage Site (NIAGADS) and other platforms facilitates research.
  • The findings underscore the importance of diverse genomic data in understanding complex diseases.