Items where Subject is "variant calling"

Paper

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)

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

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

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)

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

Conference or Workshop Item

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 (Unpublished)