KaryoScan: abnormal karyotype detection from whole-exome sequence
作者： Evan K. Maxwell , Claudia Gonzaga-Jauregui , Shane E. McCarthy , Colm O’Dushlaine , Jeffrey Staples
DOI: 10.1101/204719
关键词:
摘要: Motivation: Detection of abnormal karyotypes from whole-exome sequencing has significant clinical potential, enabling a primary screen for chromosomal anomalies among samples undergoing short-read nucleotide resolution genomic characterization. Results: We present KaryoScan, high-throughput method detecting within large cohort exome studies. detect and validate autosomal sex aneuploidies in cohort, demonstrate detection smaller complex events (partial chromosome, mosaic, copy neutral, rearrangements), representing the range that can be uncovered exome. Availability: https://github.com/rgcgithub/karyoscan
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