Browsing Genetics and Epidemiology by author "Clarke, Matthew"
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Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.
Yost, S; de Wolf, B; Hanks, S; Zachariou, A; Marcozzi, C; et al. (NATURE PORTFOLIO, 2017-07-01)Through exome sequencing, we identified six individuals with biallelic loss-of-function mutations in TRIP13. All six developed Wilms tumor. Constitutional mosaic aneuploidies, microcephaly, developmental delay and seizures, ... -
CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting.
Münz, M; Ruark, E; Renwick, A; Ramsay, E; Clarke, M; et al. (BMC, 2015-07-28)BACKGROUND: Next-generation sequencing (NGS) offers unprecedented opportunities to expand clinical genomics. It also presents challenges with respect to integration with data from other sequencing methods and historical ... -
OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.
Ruark, E; Münz, M; Clarke, M; Renwick, A; Ramsay, E; et al. (NATURE PORTFOLIO, 2016-08-03)We present an easy-to-use, open-source Optimised Exome analysis tool, OpEx (http://icr.ac.uk/opex) that accurately detects small-scale variation, including indels, to clinical standards. We evaluated OpEx performance with ...