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Exome sequencing #
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Exome sequencing (also known as Whole exome sequencing or WES) is a technique for sequencing all the protein-coding genes in a genome (known as the exome). (http://en.wikipedia.org/wiki/Exome_sequencing)

보통 7,8만개의 SNV 정보를 알려줌

From Genomics and Precision Medicine #

Why study just the exome?

  • More predicable effect of mutations
  • >85% of known mutations for rare Mendelian disorders occur in the exome
  • Cheaper, faster and easier to analysis just 2% rather than the entire genome (Whole genome sequencing)

What WES can reliably detect?

  • Small variants(SNVs or small indels) - Read depth
  • Some CNVs
  • Not larger indels or trinucleotide repeats
  • Exon deletions are hit-or-miss using depth of coverage measures

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