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Exome sequencing

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 (known as the exome). 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…

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Applications of exome sequencing

Candidate geneNegative selectionAutismAutoimmune disorderAlopecia Areata
16 related topics

Data analysis

False positiveFalse negativeRecessive disordersDbSNPCystic fibrosis
12 related topics

Overview

GenomicSequencingGenesGenomeExome
34 related topics

Motivation and comparison to other approaches

Mendelian diseasesSNP arraysSyndromeComparative genomic hybridization
4 related topics

Topics to explore

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Overview

Motivation and comparison to other approaches

Technical methodology

Comparison with other technologies

Data analysis

Ethical implications

Applications of exome sequencing

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Map overview Semantic statistics

Exome sequencing

Nodes81
Edges80
Triples94
Avg. degree1.98
Density0.024691
Components1

How this topic connects Entity context

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Exome sequencing

Top relations

related to Commercial costs · 16
Exome sequencing → BGI, CLIA-certified, Consumers, DNADTC, Gene, Genos, In June, In November, In October, Knome, Later, Multiple, September, The, This, WES
related to Step 2: Sequencing · 15
Exome sequencing → DNA, HiSeq, II, Illumina MiSeq, Illumina's Illumina Genome Analyzer, Life Technologies Ion Torrent, Life Technologies SOLiD, Next Generation Sequencing, NGS, NovaSeq, Other, Roche, Sanger, There, These
related to Rare variant mapping in complex disorders · 9
Exome sequencing → Alopecia Areata, Current, Exome, However, In, KRT82, The, This, Whole
related to Clinical diagnostics · 8
Exome sequencing → Analysis, Exome, Having, Identification, Knowledge, The, There, XIAP
related to Microarray-based genotyping · 6
Exome sequencing → Although, DNA, Hence, In, Microarrays, WES
related to Motivation and comparison to other approaches · 6
Exome sequencing → Exome, Furthermore, In, Mendelian, SNP, These
related to Step 1: Target-enrichment strategies · 6
Exome sequencing → DGS, DNA, Several, Target-enrichment, The, Though
related to Whole-genome sequencing · 5
Exome sequencing → Exome, For, It, The, There
related to Discovery of Mendelian disorders · 4
Exome sequencing → Because, Exome, In Mendelian, Mendelian
related to Ethical implications · 4
Exome sequencing → New, Should, This, With

Important terminology Word statistics

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Important terminology

sequencing exome variants genes rare identify genetic whole genome dna gene disease used needed genomic common citation syndrome regions variant

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
SNP arrays can only detect shared genetic variants that are common to many individuals in the wider populationinstance oftechniques0.80text
whole genome sequencinginstance ofwhich can be found using other methods0.80text
dbSNPinstance ofin public databases0.80text
exome sequencinginstance ofWith approaches0.80text
it is possible to significantly enhance the data generated from individual genomes which has put forth a series of questions on how to deal with the vast amount of informationinstance ofWith approaches0.80text
non-synonymous mutationsinstance ofThey looked at variants that have the potential to be pathogenic0.80text
splice acceptorinstance ofThey looked at variants that have the potential to be pathogenic0.80text
donor sitesinstance ofThey looked at variants that have the potential to be pathogenic0.80text
short coding insertions or deletionsinstance ofThey looked at variants that have the potential to be pathogenic0.80text
Exome sequencinghas applicationBy0.60section
Exome sequencinghas applicationThis0.60section
Exome sequencingrelated to Clinical diagnosticsExome0.60section

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