Amoolya Maddali
- Role
- Bioinformatician at Pierian
- Location
- Fort Wayne, IN, US
- LinkedIn followers
- 500 followers
About Amoolya Maddali
I have a master\'s degree in bioinformatics from UNC Charlotte, where I gained hands-on…
Experience
Bioinformatician
Nov 2018 — Present
Serves as bioinformatics pipeline expert in the team and solve pipeline related malfunctions like patient cases failing because of incorrect representation of fusions, variants missing in the client report due to anomalies in the scripts etc. Performs bug fixes in bioinformatics scripts using Perl, Python, Bash, SQL etc. Checks the correctness of Human Genome Variation Society (HGVS) syntaxes using Integrated Genomic Viewer (IGV) and edits patient data interpretation reports. Automates processes which are otherwise a bottleneck to the team. For example: automate the process of providing access to inhouse tools to all the members of the team which when done manually would take more than 6 hours. Runs SQL queries on client case data for the billing department to calculate the number of cases based on patient data validations, patient care cases, times report generated, clinical assay of the cases which requires expertise in SQL and in-depth knowledge on scientific aspects of the client\'s bioinformatics conduit. CGW interacts with third-party software like ‘Archer’, Illumina’s TSO500 to provide patient reports. Any glitches in this interaction will cause problems like Patient case failure, compromised data integrity etc. which will eventually cause delays in patient care. A Bioinformatician will make sure pipelines are design in such a way that there are no flaws and setbacks in the way these interactions are designed. In case these pipelines hit a snag, bioinformatician should make sure they address it and fix it which involves a deep understanding of science behind these workflows to get the reports on time and make sure no patient care is affected. Troubleshoots and develops workflow management systems like HT condor and Cromwell. These systems are responsible for controlling and managing thousands of bioinformatics activities running on genomics workspace. Working knowledge of AWS console, Amazon EC2, S3 etc. are used in this process.
Skills
- Perl
- Bioinformatics
- Mysql
- Microsoft Excel
- Python
- Unix
- Java
- Microsoft Office
- C
- Genomics
- Postgresql
- Biochemistry
- Research
- Cell Biology
- Bioinformatics Tools
- R
- Microsoft Powerpoint
- Statistics
- R Programming
- Programming
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