Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach - Yamamoto, Toshiyuki; Shimojima, Keiko; Ondo, Yumiko; Imai, Katsumi; Chong, Pin Fee; Kira, Ryutaro; Amemiya, Mitsuhiro; Saito, Akira; Okamoto, Nobuhiko (Human genome variation, 2016)
Keywords: 631/208/2489/144; 692/308/2056; Biomedical and Life Sciences; Biomedicine; Gene Expression; Gene Function; Gene Therapy; Human Genetics; Molecular Medicine