Madelynne Manansala
American Canyon,CA
Summary
Clinical variant scientist with over 5 years of experience conducting variant classification for diagnostic panels with expertise in hereditary cancer. 13 years of experience working in major clinical genetic testing laboratories. Previous roles include product assay development on next generation and Sanger sequencing platforms and data analysis for high throughput next generation sequencing diagnostic panels.
Overview
13
13
years of professional experience
Work History
Clinical Genomics Scientist
Invitae Corporation
01.2018 - 07.2023
- Responsible for critically analyzing and interpreting clinical and genetic information for classification of variants on diagnostic panels including cardiology, neurology, immunology, and pediatric panels, with primary expertise in hereditary cancer variant interpretation per ACMG guidelines
- Responsible for writing and generating clinical diagnostic reports
- Member of scientific inquiries team responsible for responding to escalated client inquiries about classification discrepancies, to clarify diagnostic reports, and discuss variant classification guidelines
- Involved in developing and curating genetic content for genes on hereditary cancer panels
Senior Research Associate II, Product Development
Natera
06.2016 - 01.2018
- Responsible for MLPA and Sanger sequencing assay development and optimization for carrier screening product launch
- Train cross functional teams on QC and sequencing level Sanger sequencing analysis and MLPA-based CNV genotyping for data pipeline development and LabVantage user interface development
- Design and execute experiments on automated instruments and liquid handlers for high throughput adaptation of manual assays
- Provide detailed project updates and present experimental data to cross functional teams
- Draft SOPs and work closely with operations team to prepare for product launch following CLIA guidelines
Senior Molecular Genetics Analyst, NextGen
GeneDx
11.2013 - 06.2016
- Performed NextGen sequencing data analysis; submitted necessary variants for confirmation by Sanger sequencing and annotated variants per ACMG guidelines
- Updated internal variant databases with variant frequency, amino acid changes, and evolutionary conservation information for novel variants or variants up for re-vet
- Successfully managed high-throughput NextGen sequencing clinical panels. Both labwork and analysis completed under strict timelines while adhering to CLIA and CAP regulations
- Successfully troubleshot sequencing failures through primer design, optimization of PCR reactions, investigation of allele dropouts, and evaluations of large insertions/deletions
- Reviewed clinical reports to verify submissions for NCBI ClinVar database
Senior R&D Technical Specialist, New Test Development
GeneDx
03.2011 - 11.2013
- Developed and optimized next generation sequencing test panels for the detection of mutations in brain, neurological, and pulmonary disorders using multiplex PCR based technologies
- Operated library prep and DNA sequencing instrumentation including the Covaris AFA, Fluidigm Access Array System, RainDance ThunderStorm System, Ion Torrent PGM Sequencer, and Illumina MiSeq
- Primary sequence analysis, interpretation, and review of single gene and next generation sequencing test panels
- Ensured laboratory compliance to QA/QC, CLIA, and New York State license regulations
R&D DNA Technician II, New Test Development
GeneDx
06.2010 - 03.2011
- Developed single gene tests for the detection of mutations in pulmonary, mitochondrial, and eye disorders using PCR based technologies
- Designed primers, updated primer databases, annotated primers in projects for new tests following R&D guidelines
- Analyzed primary sequences for new test development
- Conducted PCRs, gel electrophoresis, and used Caliper DNA system to amplify and separate DNA fragments
- Sequenced DNA using ABI sequencing method
Education
Master of Science - Biochemistry and Molecular Biology
Georgetown University
Washington, DC2010
Bachelor of Science - Neuroscience
College of William & Mary
Williamsburg, VA2008
Skills
- Variant interpretation
- Clinical diagnostic report writing
- NextGen sequencing variant analysis
- Sanger sequencing variant analysis
- Gene curation
- PCR and multiplex-PCR based assay design
Timeline
Clinical Genomics Scientist
Invitae Corporation
01.2018 - 07.2023
Senior Research Associate II, Product Development
Natera
06.2016 - 01.2018
Senior Molecular Genetics Analyst, NextGen
GeneDx
11.2013 - 06.2016
Senior R&D Technical Specialist, New Test Development
GeneDx
03.2011 - 11.2013
R&D DNA Technician II, New Test Development
GeneDx
06.2010 - 03.2011
Master of Science - Biochemistry and Molecular Biology
Georgetown University
Bachelor of Science - Neuroscience
College of William & Mary
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