Article

KaryoScan: abnormal karyotype detection from whole-exome sequence

2017-10-17

Abstract excerpt

<h4>Motivation</h4> Detection of abnormal karyotypes from whole-exome sequencing has significant clinical potential, enabling a primary screen for chromosomal anomalies among samples undergoing short-read sequencing for nucleotide resolution genomic characterization. <h4>Results</h4> We present KaryoScan, a high-throughput method for detecting chromosomal anomalies within large cohort exome sequencing studies. W...

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Literature Corpus work: 8c852790-71ac-5f9f-a1cf-079839ccc684
DOI: 10.1101/204719

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