Nicole J. Burns Email & Phone Number

Expert in the analysis, interpretation, and reporting of germline variants identified by clinical whole genome sequencing (WGS) through the Illumina Laboratory Services group, a CLIA-certified, CAP-accredited laboratory. • Executed all aspects of clinical case management and analysis, including medical records review and phenotyping, variant triage and prioritization, variant and gene curation, case analysis review, and clinical report generation and QC.• Performed curation… Show more Expert in the analysis, interpretation, and reporting of germline variants identified by clinical whole genome sequencing (WGS) through the Illumina Laboratory Services group, a CLIA-certified, CAP-accredited laboratory. • Executed all aspects of clinical case management and analysis, including medical records review and phenotyping, variant triage and prioritization, variant and gene curation, case analysis review, and clinical report generation and QC.• Performed curation, interpretation, and classification of single nucleotide variants (SNVs) and small indels in nuclear and mitochondrial genes, copy number variants (CNVs), short tandem repeats (STRs), and gene-disease relationships (GDRs) in accordance with applicable ACMG/AMP or ClinGen Expert Panel guidelines for primary, secondary, and incidental findings.• Co-developed internal criteria for applying ACMG or ClinGen guidelines to variant classifications, resulting in more consistency in variant interpretation and classification across the team.• Curated content for pharmacogenomics (PGx) clinical reports following CPIC guidelines.• Led efforts to standardize case analysis, including designing workflows, conducting time studies to maximize efficiencies, writing work instructions, developing templates for curations, and regimenting clinical report content, resulting in increased uniformity and productivity, leading to reduced turn-around-times (TAT) and increased case throughput across the laboratory.• Successfully managed and led professional development and training for a dispersed team of high performing clinical scientists, genetic counselors, and contractors.• Co-managed the execution of regular on-the-job training, including development of training materials, and competency testing across the team.• Key contributor to the laboratory’s ongoing data sharing initiatives to ClinVar, GeneMatcher, and The GenCC.• ClinGen biocurator for the ClinGen Syndromic Disorders Gene Curation Expert Panel. Show less

Scientific consulting to Illumina through ProUnlimited.

Managed design-controlled medical device product development projects for this innovator in medical aesthetics.• Managed class III medical device development projects, including new product developments and product line extensions.• Led efforts of R&D, manufacturing, quality, regulatory, and clinical affairs personnel through successful pivotal clinical trial, FDA submission, and manufacturing scale-up activities for a new medical device.• Coordinated clinical protocol developments… Show more Managed design-controlled medical device product development projects for this innovator in medical aesthetics.• Managed class III medical device development projects, including new product developments and product line extensions.• Led efforts of R&D, manufacturing, quality, regulatory, and clinical affairs personnel through successful pivotal clinical trial, FDA submission, and manufacturing scale-up activities for a new medical device.• Coordinated clinical protocol developments and IDE regulatory submission preparations in pursuit of new clinical indications for existing medical devices.• Initiated and planned project to launch an existing medical device in the Chinese market, including coordination with international colleagues to determine project strategy and contract with CRO for local regulatory and clinical support. Show less

Managed all aspects of the design-controlled phase-gate product development process. Functioned as project manager, technical lead, and supervisor of a team of scientists, for this innovator, manufacturer, and supplier of DNA microarrays and associated reagents, consumables, instruments, and services.• Successfully led cross-functional project teams to launch twelve microarray reagent products within time and budget constraints.• Led project to develop reagents for a microarray-based… Show more Managed all aspects of the design-controlled phase-gate product development process. Functioned as project manager, technical lead, and supervisor of a team of scientists, for this innovator, manufacturer, and supplier of DNA microarrays and associated reagents, consumables, instruments, and services.• Successfully led cross-functional project teams to launch twelve microarray reagent products within time and budget constraints.• Led project to develop reagents for a microarray-based in-vitro diagnostic (IVD) assay to gain entry into medical device market.• Co-created Roche NimbleGen’s Design Control System for product development, introducing project organization, accountability, and improved compliance within the firm’s quality system.• Partnered with quality department to establish Roche NimbleGen’s first stability testing program to increase the accuracy of product shelf life and stability claims.• Designed and executed experiments on the aCGH, ChIP-chip, DNA Methylation, and Gene Expression microarray applications in support of new product development and customer inquiries and complaints.• Established excellent rapport with international colleagues in production, quality assurance, quality control, and procurement to facilitate project success.• Provided third-level technical support of Roche NimbleGen’s reagents portfolio.• Key participant in internal audits and Correct Actions Preventative Actions (CAPA) investigations; trained as internal auditor.• Demonstrated superior written communication skills by authoring technical and quality documents. Show less

Provided research support for three small laboratories within this large public university.• Managed all aspects of set-up and maintenance for a new research laboratory, including ordering and calibrating equipment and supplies, writing protocols and safety documents, and ensuring laboratory members received appropriate training.• Managed day-to-day functions of laboratory and small-scale greenhouse.• Supervised, mentored, and trained team members on laboratory techniques and safety… Show more Provided research support for three small laboratories within this large public university.• Managed all aspects of set-up and maintenance for a new research laboratory, including ordering and calibrating equipment and supplies, writing protocols and safety documents, and ensuring laboratory members received appropriate training.• Managed day-to-day functions of laboratory and small-scale greenhouse.• Supervised, mentored, and trained team members on laboratory techniques and safety procedures.• Executed various molecular biology techniques in support of the research goals of the principal investigators. Show less

Performed genetic modification of soybean and cotton to support new product development for this former Fortune 500 agriculture biotechnology company.• Co-led new automation technology implementation effort.• Helped improve and streamline procedures for plasmid transformation and preparation, and inoculation preparation; reduced costs and improved results.• Performed plant tissue culture using sterile techniques and executed molecular biology techniques.• Created, reviewed, and… Show more Performed genetic modification of soybean and cotton to support new product development for this former Fortune 500 agriculture biotechnology company.• Co-led new automation technology implementation effort.• Helped improve and streamline procedures for plasmid transformation and preparation, and inoculation preparation; reduced costs and improved results.• Performed plant tissue culture using sterile techniques and executed molecular biology techniques.• Created, reviewed, and edited standard operating procedures (SOPs). Show less

M.S., Biotechnology

M.S., Project Management

B.S., Entomology