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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.
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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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Updated: Mar 29, 2026

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Exome sequencing explained: a practical guide to its clinical application.

Eleanor G Seaby, Reuben J Pengelly, Sarah Ennis

    Briefings in Functional Genomics
    |December 15, 2015
    PubMed
    Summary
    This summary is machine-generated.

    Whole-exome sequencing (WES) aids rare disease diagnosis by identifying causal mutations. This review guides clinicians and bioinformaticians through WES data interpretation and variant filtering for accurate clinical reporting.

    Keywords:
    clinical genomicsnext-generation sequencingwhole-exome sequencing

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    Area of Science:

    • Genomics
    • Clinical Medicine
    • Bioinformatics

    Background:

    • Next-generation sequencing (NGS) has ushered in a new era of genomic medicine.
    • Whole-exome sequencing (WES) targets protein-coding regions, proving effective in diagnosing rare diseases of unknown origin with a diagnostic rate nearing 25%.

    Purpose of the Study:

    • To provide a practical guide for clinicians and genomic informaticians on the clinical application of whole-exome sequencing.
    • To address sequencing methodology, quality control, and propose a data filtering strategy for variant prioritization.

    Main Methods:

    • Review of whole-exome sequencing capture and methodology.
    • Discussion of quality control parameters throughout the sequencing analysis pipeline.
    • Proposal of a two-tiered exome data filtering strategy: primary filtering for benign variants and secondary filtering for candidate prioritization.

    Main Results:

    • WES has a diagnostic yield of approximately 25% for rare diseases.
    • Interpretation of WES data requires specialized expertise in genomic informatics and clinical medicine.
    • Computational strategies and filtering frameworks are essential for managing large datasets and identifying significant variants.

    Conclusions:

    • Accurate interpretation of WES data necessitates rigorous computational analysis and biological scrutiny.
    • A systematic filtering strategy is crucial for prioritizing candidate variants for clinical reporting.
    • This review offers practical insights into the clinical utility and interpretation of whole-exome sequencing data.