Rini Pauly

PeerJ Reviewer

Summary

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.

Bioinformatics Biotechnology Computational Biology Data Mining & Machine Learning Data Science Genetics Genomics

Past or current institution affiliations

Emory University

Vanderbilt University

Work details

Bioinformatics Specialist

Greenwood Genetic Center

March 2015

Research

• Developed and implemented NGS pipelines for samples with Autism Spectrum Disorder (ASD) and X-Linked Intellectual Disability (XLID). • Determined critical quality control metrics for research. • Mined, interpreted and developed systems for data processing of Phenotype Microarray data. • Created statistical models and algorithms for processing large volume of data efficiently generating accurate analysis.

Bioinformatics Systems Engineer -I

Vanderbilt University

May 2011 - August 2012

Departments of Biological Sciences and Pathology, Microbiology, & Immunology

• Responsible for NGS data analysis of 5 sequencing projects (Grasshopper, Nasonia viruses, Drosophila melanogaster gene expression and Methylation patterns) • Maintenance of lab databases and websites (PHP, MySQL, JavaScript) • Setup an internal linux server and RAID system • Developed and implemented various analyses and reported tools

Bioinformatics Analyst

Emory University

August 2012 - March 2015

Winship Cancer Institute

• Responsible for RNA-Seq, DNA-Seq and Exome-Seq data analysis of human cancer sequencing projects (DLBCL, Multiple Myeloma and Pancreatic Cancer). • Responsible for human cancer microarray analysis (Affymetrix, Illumina) • Developed and implemented various pipelines for expression and variant analyses

Websites

Google Scholar

PeerJ Contributions

Reviewed 2

Signed reviews submitted for articles published in PeerJ Note that some articles may not have the review itself made public unless authors have made them open as well.

November 15, 2019

Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients

Zuzana Capkova, Pavlina Capkova, Josef Srovnal, Katerina Staffova, Vera Becvarova, Marie Trkova, Katerina Adamova, Alena Santava, Vaclava Curtisova, Marian Hajduch, Martin Prochazka

https://doi.org/10.7717/peerj.7979 PubMed 31741789

November 16, 2018

beadplexr: reproducible and automated analysis of multiplex bead assays

Ulrik Stervbo, Timm H. Westhoff, Nina Babel

https://doi.org/10.7717/peerj.5794 PubMed 30479885