Items where Subject is "variant calling"

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Darby, C. A., Fitch, J. R., Brennan, P. J., Kelly, B. J., Bir, N., Magrini, V., Leonard, J., Cottrell, C. E., Gastier-Foster, J. M., Wilson, R. K., Mardis, E. R., White, P., Langmead, B., Schatz, M. C. (August 2019) Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads. iScience, 18 (Specia). pp. 1-10. ISSN 2589-0042 (Public Dataset)

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Fang, H., Wu, Y., Yang, H., Yoon, M., Jimenez-Barron, L. T., Mittelman, D., Robison, R., Wang, K., Lyon, G. J. (February 2017) Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine. BMC Med Genomics, 10 (1). p. 10. ISSN 1755-8794

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Hunt, Martin, Letcher, Brice, Malone, Kerri M, Nguyen, Giang, Hall, Michael B, Colquhoun, Rachel M, Lima, Leandro, Schatz, Michael C, Ramakrishnan, Srividya, CRyPTIC consortium, Iqbal, Zamin (July 2022) Minos: variant adjudication and joint genotyping of cohorts of bacterial genomes. Genome Biology, 23 (1). p. 147. ISSN 1474-760X

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Jimenez Barron, Laura, Lyon, Gholson J. (November 2014) Genome Wide Variant Analysis of families with Autism Spectrum Disorder (ASD) using an Integrative Bioinformatics Pipeline. In: Cold Spring Harbor Laboratory Personal Genomes Meeting , November 2014, Cold Spring Harbor, NY . (Unpublished)

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Moffitt, A. B., Spector, M. S., Andrews, P., Kendall, J., Alexander, J., Stepansky, A., Ma, B., Kolitz, J., Chiorazzi, N., Allen, S.L., Krasnitz, A., Wigler, M., Levy, D., Wang, Z. (February 2020) Multiplex Accurate Sensitive Quantitation (MASQ) With Application to Minimal Residual Disease in Acute Myeloid Leukemia. Nucleic Acids Research, 48 (7). e40. ISSN 0305-1048 (Public Dataset)

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Pinto, Brendan J, O'Connor, Brian, Schatz, Michael C, Zarate, Samantha, Wilson, Melissa A (September 2023) Concerning the eXclusion in human genomics: the choice of sex chromosome representation in the human genome drastically affects the number of identified variants. G3: Genes, Genomes, Genetics, 13 (10). jkad169. ISSN 2160-1836

Pirooznia, M., Kramer, M., Parla, J., Goes, F. S., Potash, J. B., McCombie, W. R., Zandi, P. P. (July 2014) Validation and assessment of variant calling pipelines for next-generation sequencing. Human Genomics, 8. ISSN 1473-95421479-7364 eISSN