Jason O'Rawe
Jason O'Rawe
Невідома організація
Підтверджена електронна адреса в cshl.edu
Назва
Посилання
Посилання
Рік
Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing
J O'Rawe, T Jiang, G Sun, Y Wu, W Wang, J Hu, P Bodily, L Tian, ...
Genome medicine 5 (3), 1-18, 2013
4742013
Accurate de novo and transmitted indel detection in exome-capture data using microassembly
G Narzisi, JA O'rawe, I Iossifov, H Fang, Y Lee, Z Wang, Y Wu, GJ Lyon, ...
Nature methods 11 (10), 1033-1036, 2014
1892014
Reducing INDEL calling errors in whole genome and exome sequencing data
H Fang, Y Wu, G Narzisi, J O’Rawe, L Jimenez Barrón, J Rosenbaum, ...
Genome Medicine 6 (10), 2014
1492014
TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations
JA O’Rawe, Y Wu, MJ Dörfel, AF Rope, PYB Au, JS Parboosingh, S Moon, ...
The American Journal of Human Genetics 97 (6), 922-932, 2015
732015
Indel variant analysis of short-read sequencing data with Scalpel
H Fang, EA Bergmann, K Arora, V Vacic, MC Zody, I Iossifov, JA O'Rawe, ...
Nature protocols 11 (12), 2529, 2016
662016
Accounting for uncertainty in DNA sequencing data
JA O’Rawe, S Ferson, GJ Lyon
Trends in Genetics 31 (2), 61-66, 2015
502015
Natural language of uncertainty: numeric hedge words
S Ferson, J O'Rawe, A Antonenko, J Siegrist, J Mickley, CC Luhmann, ...
International Journal of Approximate Reasoning 57, 19-39, 2015
232015
SeqHBase: a big data toolset for family based sequencing data analysis
M He, TN Person, SJ Hebbring, E Heinzen, Z Ye, SJ Schrodi, ...
Journal of medical genetics 52 (4), 282-288, 2015
182015
Human Genetics and Clinical Aspects of Neurodevelopmental Disorders
GJ Lyon, J O'Rawe
The Genetics of Neurodevelopmental Disorders 1, 289-317, 2015
162015
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person
JA O’Rawe, H Fang, S Rynearson, R Robison, ES Kiruluta, G Higgins, ...
PeerJ 1, e177, 2013
142013
Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Med. 2013; 5: 28
J O’Rawe, T Jiang, G Sun, Y Wu, W Wang, J Hu, P Bodily, L Tian, ...
External Resources Pubmed/Medline (NLM) CrossRef (DOI), 0
12
Computing with confidence: imprecise posteriors and predictive distributions
S Ferson, J O'Rawe, M Balch
Vulnerability, Uncertainty, and Risk: Quantification, Mitigation, and …, 2014
82014
Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline
LT Jiménez-Barrón, JA O'Rawe, Y Wu, M Yoon, H Fang, I Iossifov, ...
Molecular Case Studies 1 (1), 2015
52015
Clinical genetics of neurodevelopmental disorders
GJ Lyon, J O’Rawe
bioRxiv, 000687, 2013
22013
Indel variant analysis of short-read sequencing data with Scalpel
H Fang, EA Grabowska, K Arora, V Vacic, MC Zody, I Iossifov, JA O’Rawe, ...
bioRxiv, 028050, 2015
12015
Whole genome analysis of an extended pedigree with Prader–Willi Syndrome, hereditary hemochromatosis, and dysautonomia-like symptoms
H Fang, Y Wu, M Yoon, LT Jiménez-Barrón, JA O’Rawe, G Highnam, ...
BioRxiv, 019182, 2015
2015
Uncertainty Quantification for Qualified Signature Discovery from Text
K Sentz, S Ferson, J O'Rawe
Los Alamos National Lab.(LANL), Los Alamos, NM (United States), 2014
2014
Protecting patient privacy while preserving medical information for research
G Xiang, J O'Rawe, V Kreinovich, J Hajagos, S Ferson
2014
Supplementary video of subject MA for Integrating precision medicine in the study and clinical treatment of a severely mentally ill person. PeerJ 1: e177
J O'Rawe, H Fang, S Rynearson, RJ Robison, ES Kiruluta, G Higgins, ...
2013
Whole genome sequencing analysis of a family with familial dysautonomia and neuropsychiatric symptoms
H Fang, Y Wu, J O'Rawe, D Mittelman, GJ Lyon
2013
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Статті 1–20