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Everything about Exome sequencing
Sequencing of all the exons of a genome
Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome. It consists of two steps: the first step is to select only the subset of DNA that encodes proteins. These regions are known as exons—humans have about 180,000 exons, constituting about 1% of the human genome, or approximately 30 million base pairs. The second step is to sequence the exonic DNA using any high-throughput DNA sequencing technology. Wikipedia →
🧭 Start here: a 6-step reading path
- Read the overview: Exome sequencingA 5-minute orientation
- Skim a recent paper: ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)Influential work since 2022
- Pick up a classic book: Computational Exome and Genome AnalysisThe most-reprinted book on the subject
- Read the landmark paper: VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencingCited 4,673 times
- Go sideways: ExomeA closely related topic
- Go sideways: Disease gene identificationA closely related topic
📖 Definitions
Noun The complete exon content of an organism or individual; the subset of the genome that excludes introns.
🏆 Landmark papers (most cited)
VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets
Exome sequencing identifies the cause of a mendelian disorder
Exome Sequencing of Head and Neck Squamous Cell Carcinoma Reveals Inactivating Mutations in NOTCH1
🆕 Influential since 2022
ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis
📚 Books worth reading
Computational Exome and Genome AnalysisPeter N. Robinson, Rosario Michael Piro · 2017
Ranked by number of editions on Open Library, a rough measure of how lasting a book is.
🔗 Related topics
- Exome The exome is composed of all of the exons within the genome, the sequences which, when transcribed, remain within the mature RNA after introns are removed…
- Disease gene identification Disease gene identification is a process by which scientists identify the mutant genotypes responsible for an inherited genetic disorder. Mutations in…
- Personalized genomics Personalized genomics is the human genetics-derived study of analyzing and interpreting individualized genetic information by genome sequencing to identify…
- ANNOVAR ANNOVAR (ANNOtate VARiation) is a bioinformatics software tool for the interpretation and prioritization of single nucleotide variants (SNVs), insertions…
- Human genome The human genome is a complete set of DNA sequences for each of the 22 autosomes and the two distinct sex chromosomes (X and Y) in humans. A small DNA…
- Variant of uncertain significance A variant of uncertain (or unknown) significance (VUS) is a genetic variant that has been identified through genetic testing but whose significance to…
- Personalized onco-genomics Personalized onco-genomics (POG) is the field of oncology and genomics that is focused on using whole genome analysis to make personalized clinical treatment…
- Whole genome sequencing Whole genome sequencing (WGS), also known as full genome sequencing or just genome sequencing, is the process of determining the entirety of the DNA sequence…