Article

Evaluating the genetic diagnostic power of exome sequencing: Identifying missing data

2016-08-10

Abstract excerpt

<h4>ABSTRACT</h4> A hurdle of exome sequencing is its limited capacity to represent the entire exome. To ascertain the diagnostic power of this approach we determined the extent of coverage per individual sample. Using alignment data (BAM files) from 15 exome samples, sequences of any length that were below a determined sequencing depth coverage (DP) were detected and annotated with the Ensembl exon database usin...

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Literature Corpus work: ddfa373f-e2fa-5dca-80dc-82e43641ef31
DOI: 10.1101/068825

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