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Bioinformatics (Oxford, England)|August 15, 2015
OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritizationAgne Antanaviciute, Christopher M Watson, Sally M Harrison, et al.
Bioinformatics (Oxford, England)|May 8, 2026
Utilization of Long-Read Sequencing for the Detection of Structural Rearrangements with AgileStructureCarolina Lascelles, Morag Raynor, Laura A Crinnion, et al.
Journal of Medical Genetics|January 7, 2016
Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesiaChristopher M Watson, Laura A Crinnion, Helen Murphy, et al.
BMC Medical Genetics|January 6, 2016
Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mappingChristopher M Watson, Laura A Crinnion, Ian R Berry, et al.
Science Advances|March 6, 2024
Single-cell nanobiopsy enables multigenerational longitudinal transcriptomics of cancer cellsFabio Marcuccio, Chalmers C Chau, Georgette Tanner, et al.
Biology|June 26, 2025
AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing DataChristopher M Watson, Carolina Lascelles, Morag Raynor, et al.
Human Mutation|June 4, 2015
Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype DataChristopher M Watson, Laura A Crinnion, Juliana Gurgel-Gianetti, et al.
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