Anthony Pons Email & Phone Number

Jersey City, Nj, Us

South Plainfield, Nj, Us

- Manage projects for RNAseq, Whole Genome and Exome sequencing, ChIPseq, and premade library sequencing to completion from procurement to invoicing.- Offer relevant scientific information for project design and act as a direct consultant for clients in making informed decisions during project progress, as well as troubleshoot with clients on unexpected issues that may occur- Assist in developing and implementing data analyses, applications, and workflows to expand Next Generation Sequencing services and data processing capabilities

New York, Ny, Us

- Conducted research for the development and implementation of machine learning for automated variant classification.- Collaborated with software engineers and bioinformaticians to optimize our proprietary LIMS software, variant calling pipelines, and in-house databases.- Created a comprehensive LIMS user manual to provide instruction and technical guidance for existing and future clients.

New York, Us

- Compiled data and wrote assessments for common pathogenic variants in preparation for the commercial launch of carrier screening services.https://kindbody.com/kindbody-acquires-phosphorus-labs/

New York, Ny, Us

- Determined the clinical significance of germline variants derived from next-generation sequencing according to established ACMG/AMP guidelines and ClinGen recommended gene-specific curation guidelines (e.g. MYH7, FBN1, LDLR, PTEN, ATM).- Summarized population and computational data and complex scientific literature to write concise assessments of variant pathogenicity. Examples of resources and in silico algorithms: gnomAD, ClinVar, Varsome, Genomenon Mastermind, PolyPhen, SIFT, REVEL, dbscSNV, MaxEntScan, and IGV.- Assisted lab directors and genetic counselors with reviewing patient reports.- Participated in variant curation training for new team members.

New York, Ny, Us

- Managed laboratory operations during the evening shift for COVID-19 testing, genetic testing, and specimen accessioning; oversaw laboratory quality control, management, and assurance in accordance with CAP, CLIA, and state regulations.- Developed and trained molecular laboratory technicians and specimen accessioners. Monitored individual and team performance.- Created an efficient filing system to maintain an accurate physical and online repository for laboratory records and SOPs to ensure regulatory inspection preparedness.- Successfully navigated supply shortages by managing inventory purchases for wet bench processes and forecasting usage.

New York, Ny, Us

- Extracted and quantified DNA from whole blood, saliva, and buccal swabs for next generation sequencing (NGS) through manual and automated methods.- Carried out library preparation and loaded the Illumina MiniSeq or NextSeq 500.- Designed primers for new mutations derived via NGS.- Performed Sanger confirmation testing using the AB3500 Genetic Analyzer.- Analyzed Sanger sequencing data and NGS data (QC).- Performed RNA extraction on saliva or nasal swabs for COVID-19 testing.- Ran RT-qPCR on extracted RNA and analyzed data for COVID-19 detection.- Followed GLP and quality assurance procedures in accordance with CAP, CLIA, and state regulations.

New York, Ny, Us