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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
No dictionary entry for this exact phrase.
🏆 Landmark papers (most cited)
VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants
Exome Sequencing: Current and Future Perspectives
Revisiting Mendelian disorders through exome sequencing
Whole Exome Sequencing
Whole exome and whole genome sequencing
Exome sequencing: a transformative technology
SNES: single nucleus exome sequencing
🆕 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)
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…