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Related Concept Videos

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. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
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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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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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Ribosome Profiling02:24

Ribosome Profiling

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Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
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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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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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Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
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Who would benefit from exome sequencing?

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    This summary is machine-generated.

    Exome sequencing is a powerful tool for diagnosing rare diseases and cancer by analyzing the human genome. However, interpreting genetic mutations and analyzing large genomic changes remain key challenges in its clinical application.

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    Area of Science:

    • Genomics
    • Clinical Medicine
    • Molecular Biology

    Background:

    • Next-generation sequencing has transformed human genome analysis.
    • Exome sequencing is crucial for diagnosing rare hereditary diseases, congenital disorders, and cancer.
    • Its diagnostic utility is justified when results guide accurate diagnosis, treatment, and genetic counseling.

    Purpose of the Study:

    • To highlight the capabilities and limitations of exome sequencing in clinical diagnostics.
    • To discuss the challenges in interpreting exome sequencing results, particularly distinguishing pathogenic from insignificant mutations.
    • To address the difficulties in analyzing large genomic alterations using current exome sequencing methods.

    Main Methods:

    • Exome sequencing analysis for genetic variation detection.
    • Review of clinical applications in rare hereditary diseases, developmental disorders, and cancer.
    • Evaluation of current methodologies for analyzing single base mutations, deletions, and insertions.

    Main Results:

    • Exome sequencing reliably detects single base mutations, minor deletions, and insertions.
    • Analysis of copy number variations, repeat lengths, and multi-copy regions remains challenging with current methods.
    • Distinguishing between pathogenic and insignificant mutations is a significant hurdle in result interpretation.

    Conclusions:

    • Exome sequencing is a valuable diagnostic method for specific clinical scenarios.
    • Further advancements are needed to reliably analyze complex genomic alterations and improve mutation interpretation.
    • Addressing these challenges will enhance the clinical utility of exome sequencing for genetic disorders.