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Related Concept Videos

Genomics02:02

Genomics

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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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Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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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...
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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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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Statistical Software for Data Analysis and Clinical Trials01:12

Statistical Software for Data Analysis and Clinical Trials

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Statistical software is pivotal in data analysis and clinical trials by providing tools to analyze data, draw conclusions, and make predictions. These software packages range from simple data management applications to complex analytical platforms, supporting various statistical tests, models, and simulation techniques. Their significance lies in their ability to handle vast amounts of data with precision and efficiency, enabling researchers to validate hypotheses, identify trends, and make...
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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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Related Experiment Video

Updated: Feb 22, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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Cloud-based interactive analytics for terabytes of genomic variants data.

Cuiping Pan1,2, Gregory McInnes1,3, Nicole Deflaux4,5

  • 1VA Palo Alto Health Care System, Palo Alto Epidemiology Research and Information Center for Genomics, CA 94304, USA.

Bioinformatics (Oxford, England)
|September 30, 2017
PubMed
Summary
This summary is machine-generated.

We developed a cloud-based system for rapid analysis of large genomic datasets, significantly speeding up common genomic queries. This approach enables faster biological insights from big data in genomics.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • Large-scale genomic sequencing generates vast and diverse data for various scientific fields.
  • Existing data handling and analysis solutions struggle with the scale and complexity of genomic data.

Purpose of the Study:

  • To develop a robust and scalable solution for handling and analyzing large volumes of genomic data.
  • To enable interactive analytics for faster biological information retrieval.

Main Methods:

  • Implemented an analysis framework using Google Cloud Platform and BigQuery.
  • Utilized a cloud-based columnar database built on Dremel for data compression and quality control.
  • Applied the system to analyze 475 deeply sequenced human genomes.

Main Results:

  • Demonstrated orders of magnitude faster turnaround for common genomic analyses.
  • Transformed long-running batch jobs into interactive web browser queries.
  • Assessed genomic call rate, genotype and allele frequency distribution, variant density, and pharmacogenomic information in the study population.

Conclusions:

  • Cloud-based Big Data computing paradigms offer a scalable and efficient solution for genomic data analysis.
  • Interactive analytics significantly accelerate the process of extracting biological insights from large genomic datasets.