Additional file 2 of REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats
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https://springernature.figshare.com/articles/dataset/Additional_file_2_of_REViewer_haplotype-resolved_visualization_of_read_alignments_in_and_around_tandem_repeats/20472595/1
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Additional file 2: Table S1. A description of 133 repeats used for the concordance study. Each row describes the basic sample/repeat information (columns Sample, Sex, Locus), repeat size estimated by PCR and EH (columns PCR_short, PCR_long, EH_short, EH_long, EH_short_CI, EH_long_CI), size thresholds (columns Premuation, Pathogenic), verdicts based on PCR & EH size estimates (columns PCR_verdict, EH_verdict), and analyst verdicts (columns Analyst 1, …, Analyst 12).
提供机构：
Anyansi, Christine; Clamons, Samuel; Friedman, Jan M.; Jadhav, Bharati; Bennett, Mark F.; Fazal, Sarah; Carroll, Ashley; Danzi, Matt C.; Halman, Andreas; Richmond, Phillip A.; Chong, Samuel S.; Dolzhenko, Egor; Ibañez, Kristina; Scheffler, Konrad; Rehm, Heidi L.; van Vugt, Joke J. F. A.; Tucci, Arianna; Saunders, Christopher T.; Eberle, Michael A.; Weisburd, Ben; Zwamborn, Ramona R. A. J.; Billingsley, Kimberley; Qiu, Yunjiang; Rajan-Babu, Indhu-Shree; Deshpande, Viraj; Ding, Jinhui
创建时间：
2022-08-11
