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| Fang H, Bergmann EA, Arora K, et al. (2016) Indel variant analysis of short-read sequencing data with Scalpel. Nature Protocols. 11: 2529-2548 |
| Jiménez-Barrón LT, O'Rawe JA, Wu Y, et al. (2015) Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline. Cold Spring Harbor Molecular Case Studies. 1: a000422 |
| O'Rawe JA, Wu Y, Dörfel MJ, et al. (2015) TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. American Journal of Human Genetics. 97: 922-32 |
| He M, Person TN, Hebbring SJ, et al. (2015) SeqHBase: a big data toolset for family based sequencing data analysis. Journal of Medical Genetics. 52: 282-8 |
| O'Rawe JA, Ferson S, Lyon GJ. (2015) Accounting for uncertainty in DNA sequencing data. Trends in Genetics : Tig. 31: 61-6 |
| Fang H, Wu Y, Narzisi G, et al. (2014) Reducing INDEL calling errors in whole genome and exome sequencing data. Genome Medicine. 6: 89 |
| Narzisi G, O'Rawe JA, Iossifov I, et al. (2014) Accurate de novo and transmitted indel detection in exome-capture data using microassembly. Nature Methods. 11: 1033-6 |
| O'Rawe JA, Fang H, Rynearson S, et al. (2013) Integrating precision medicine in the study and clinical treatment of a severely mentally ill person. Peerj. 1: e177 |
| O'Rawe J, Jiang T, Sun G, et al. (2013) Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Medicine. 5: 28 |