Pauly, Rini

Bioinformatics Specialist

Pauly, Rini

Rini Pauly is a Bioinformatics Specialist supporting biostatistics and bioinformatics analysis projects in the JC Self Research at Greenwood Genetics Center (GGC). She joined GGC in March 2015. Prior to her arrival she was a Bioinformatics Analyst at Winship Cancer Institute at Emory University for three years. Most recently, she is working on creating statistical models and computational algorithms for processing large volumes of genomic data efficiently.

Her current projects include development and implementation of NGS analysis pipelines for WGS, RNA-seq and Exome-Seq samples with Autism Spectrum Disorder (ASD) and Intellectual Disability (ID). She has also applied machine learning approaches for data processing and interpretation of Biolog© Phenotype Microarray data program by analyzing metabolic profiles of ASD patients and typically developing controls.

Contact Information

Office (864) 941-8126
Fax (864) 388-1808

Education and Professional Appointments

  • B.Tech, Bioinformatics, Mumbai University, India, 2008

  • M.S., Bioinformatics, IUPUI, Indianapolis, IN, 2011

  • Biomedical Database Developer Intern- Methodist Hospital, Indianapolis, Indiana (May-July 2009)

  • Research Assistant - Indiana University School of Informatics (May 2009-July 2010)

  • Scientific Programmer - Indiana University School of Medicine (August 2008-May 2011)

  • Bioinformatics Intern- Dow AgroSciences, Indianapolis, Indiana (May 2011-August 2011)

  • Bioinformatics Systems Engineer I – Vanderbilt University (May 2011-August 2012)

  • Bioinformatics Analyst –Emory University (August 2012-March 2015)

  • Bioinformatics Specialist - Greenwood Genetic Center (May 2015-present)

Selected Publications

  • Gene integrated set profile analysis: a context-based approach for inferring biological endpoints. Kowalski J, Dwivedi B, Newman S, Switchenko JM, Pauly R, Gutman DA, Arora J, Gandhi K, Ainslie K, Doho G, Qin Z, Moreno CS, Rossi MR, Vertino PM, Lonial S, Bernal-Mizrachi L, Boise LH. Nucleic Acids Res. 2016 Apr 20;44(7):e69. doi: 10.1093/nar/gkv1503.

  • Farewell to GBM-O: Genomic and transcriptomic profiling of glioblastoma with oligodendroglioma component reveals distinct molecular subgroups. Hinrichs BH, Newman S, Appin CL, Dunn W, Cooper L, Pauly R, Kowalski J, Rossi MR, Brat DJ. Acta Neuropathol Commun. 2016 Jan 13;4:4. doi: 0.1186/s40478-015-0270-7.

  • CHD7 expression predicts survival outcomes in patients with resected pancreatic cancer. Colbert LE, Petrova AV, Fisher SB, Pantazides BG, Madden MZ, Hardy CW, Warren MD, Pan Y, Nagaraju GP, Liu EA, Saka B, Hall WA, Shelton JW, Gandhi K, Pauly R, Kowalski J, Kooby DA, El-Rayes BF, Staley CA 3rd, Adsay NV, Curran WJ Jr, Landry JC, Maithel SK, Yu DS. Cancer Res. 2014 May 15;74(10):2677-87. doi: 10.1158/0008-5472.CAN-13-1996.

  • Exome Sequencing of African American Siblings with Activated, B-Cell Like Diffuse Large B-Cell Lymphoma. R Pauly, L Bernal-Mizrachi, MR Rossi, J Koff, B Dwivedi, DL Jaye, Blood 122 (21), 3014-3014.

  • Insect Innate Immunity Database (IIID): an annotation tool for identifying immune genes in insect genomes. Brucker RM, Funkhouser LJ, Setia S, Pauly R, Bordenstein SR. PLoS One. 2012;7(9):e45125. doi:10.1371/journal.pone.0045125.
Meet Reggie Roper

Meet Reggie Roper

Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noonan-like syndrome with loose anagen hair by identifying a mutation in the SHOC2 gene. He is also an active participant in the Greenwood Community Theatre's Penguin Project. "GGC is...

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