Additional file 2 of REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

Additional file 2 of REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

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 threshold...

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Hauptverfasser: Dolzhenko, Egor, Weisburd, Ben, Ibañez, Kristina, Rajan-Babu, Indhu-Shree, Anyansi, Christine, Bennett, Mark F., Billingsley, Kimberley, Carroll, Ashley, Clamons, Samuel, Danzi, Matt C., Deshpande, Viraj, Ding, Jinhui, Fazal, Sarah, Halman, Andreas, Jadhav, Bharati, Qiu, Yunjiang, Richmond, Phillip A., Saunders, Christopher T., Scheffler, Konrad, van Vugt, Joke J. F. A., Zwamborn, Ramona R. A. J., Chong, Samuel S., Friedman, Jan M., Tucci, Arianna, Rehm, Heidi L., Eberle, Michael A.
Format: Dataset
Sprache:eng
Schlagworte:
Biotechnology
FOS: Biological sciences
Genetics
Medicine
Pharmacology
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Zusammenfassung: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).
DOI:10.6084/m9.figshare.20472595