| Year |
Citation |
Score |
| 2016 |
Fang H, Bergmann EA, Arora K, Vacic V, Zody MC, Iossifov I, O'Rawe JA, Wu Y, Jimenez Barron LT, Rosenbaum J, Ronemus M, Lee YH, Wang Z, Dikoglu E, Jobanputra V, et al. Indel variant analysis of short-read sequencing data with Scalpel. Nature Protocols. 11: 2529-2548. PMID 27854363 DOI: 10.1038/Nprot.2016.150 |
0.518 |
|
| 2015 |
Jiménez-Barrón LT, O'Rawe JA, Wu Y, Yoon M, Fang H, Iossifov I, Lyon GJ. Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline. Cold Spring Harbor Molecular Case Studies. 1: a000422. PMID 27148569 DOI: 10.1101/mcs.a000422 |
0.807 |
|
| 2015 |
O'Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, et al. TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. American Journal of Human Genetics. 97: 922-32. PMID 26637982 DOI: 10.1016/J.Ajhg.2015.11.005 |
0.744 |
|
| 2015 |
He M, Person TN, Hebbring SJ, Heinzen E, Ye Z, Schrodi SJ, McPherson EW, Lin SM, Peissig PL, Brilliant MH, O'Rawe J, Robison RJ, Lyon GJ, Wang K. SeqHBase: a big data toolset for family based sequencing data analysis. Journal of Medical Genetics. 52: 282-8. PMID 25587064 DOI: 10.1136/Jmedgenet-2014-102907 |
0.764 |
|
| 2015 |
O'Rawe JA, Ferson S, Lyon GJ. Accounting for uncertainty in DNA sequencing data. Trends in Genetics : Tig. 31: 61-6. PMID 25579994 DOI: 10.1016/J.Tig.2014.12.002 |
0.616 |
|
| 2014 |
Fang H, Wu Y, Narzisi G, O'Rawe JA, Barrón LT, Rosenbaum J, Ronemus M, Iossifov I, Schatz MC, Lyon GJ. Reducing INDEL calling errors in whole genome and exome sequencing data. Genome Medicine. 6: 89. PMID 25426171 DOI: 10.1186/S13073-014-0089-Z |
0.794 |
|
| 2014 |
Narzisi G, O'Rawe JA, Iossifov I, Fang H, Lee YH, Wang Z, Wu Y, Lyon GJ, Wigler M, Schatz MC. Accurate de novo and transmitted indel detection in exome-capture data using microassembly. Nature Methods. 11: 1033-6. PMID 25128977 DOI: 10.1038/Nmeth.3069 |
0.764 |
|
| 2013 |
O'Rawe JA, Fang H, Rynearson S, Robison R, Kiruluta ES, Higgins G, Eilbeck K, Reese MG, Lyon GJ. Integrating precision medicine in the study and clinical treatment of a severely mentally ill person. Peerj. 1: e177. PMID 24109560 DOI: 10.7717/Peerj.177 |
0.72 |
|
| 2013 |
O'Rawe J, Jiang T, Sun G, Wu Y, Wang W, Hu J, Bodily P, Tian L, Hakonarson H, Johnson WE, Wei Z, Wang K, Lyon GJ. Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Medicine. 5: 28. PMID 23537139 DOI: 10.1186/Gm432 |
0.82 |
|
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