Jessica Farmer Bugarin Email & Phone Number

Delivered guest lecture on the importance of literature and variant curation and mentored students at University of Alabama - BirminghamConduct a detailed review of scientific literature to identify and summarize evidence of pathogenicity for genetic variants – including case/cohort studies, functional studies, and review articles Variant interpretation using criteria defined in published guidelines Review variant nomenclature for potential issues or errors Review project… Show more Delivered guest lecture on the importance of literature and variant curation and mentored students at University of Alabama - BirminghamConduct a detailed review of scientific literature to identify and summarize evidence of pathogenicity for genetic variants – including case/cohort studies, functional studies, and review articles Variant interpretation using criteria defined in published guidelines Review variant nomenclature for potential issues or errors Review project statement of work documents to outline project requirements Review and critically examine current knowledge base for genetic conditions to provide a foundation for variant interpretation procedures Creation of a project-specific SOP to enable timely and accurate project completion Review and characterization of project data to identify trends, including genotype-phenotype relationships, novel disease mechanisms, etc. Utilize and aid in the design of internal software applications for variant interpretation Aid in quality assurance/quality control processes Participate in team discussions regarding variant curation process and software applications Perform other tasks as required to achieve company goals Show less

Teach a DNA Sequencing and Variant Analysis Course to Master of Science in Human Genetics and Genomic Data Analytics studentsInstruct students to curate gene-disease relationships according to ClinGen's Gene Clinical Validity Curation Process SOP V9 and to curate germline genetic variants according to ACMG guidelinesCourse description: This course provides a detailed understanding of DNA sequencingtechnologies and genome sequence interpretation. Students will learn about the variety… Show more Teach a DNA Sequencing and Variant Analysis Course to Master of Science in Human Genetics and Genomic Data Analytics studentsInstruct students to curate gene-disease relationships according to ClinGen's Gene Clinical Validity Curation Process SOP V9 and to curate germline genetic variants according to ACMG guidelinesCourse description: This course provides a detailed understanding of DNA sequencingtechnologies and genome sequence interpretation. Students will learn about the variety ofsequencing techniques and platforms, including generated data types and file formats.Emphasis will be placed on the relative strengths of genotyping arrays, targeting sequencing,whole genome sequencing, and whole exome sequencing strategies in study design andclinical practice. The second half of the course will focus on individual and family-basedsequencing projects, including the identification of single nucleotide polymorphisms, indels,copy number variants, and chromosome rearrangements and the determination of variantsignificance. Other topics may include personal identity testing, molecular anthropology, andsomatic single cell sequencing. Show less

Plan and organize club meetings and design meeting slidesCollaborated as a team to host Rare Disease Day, a large event with several speakers in the Rare Disease industry and student poster competitionEnhanced knowledge of the rare disease space and learned how rare diseases affect patients and their families

Contributed to the development and validation of a methylation based ctDNA assay for early detection ofbreast, ovarian, and ten additional solid tumors typesVisualization and management of sequencing data utilizing R packages such as ggplot2, pheatmap, dplyr,Bioconductor, tibble, and othersPresented data and graphs to the team at weekly meetings and incorporated feedback into the analysisDocumented and explained previously written Python pipeline to supervisor and R&D… Show more Contributed to the development and validation of a methylation based ctDNA assay for early detection ofbreast, ovarian, and ten additional solid tumors typesVisualization and management of sequencing data utilizing R packages such as ggplot2, pheatmap, dplyr,Bioconductor, tibble, and othersPresented data and graphs to the team at weekly meetings and incorporated feedback into the analysisDocumented and explained previously written Python pipeline to supervisor and R&D team Show less

Attended class meetings to facilitate group learning and answer student questionsGraded homeworkHeld weekly office hours to hold review sessions and answer student questions

Vice president of the genetics cabinet in the KGI student government.Assist the president in various activities, events, and meetings.Fill in for the president when necessary for student government meetings.Facilitate overall collaboration, communication within and between cohorts, and hold accountability within the cabinet. Goals include bringing awareness to the MSGDA program and networking with other students.

Assisted students in the laboratory by answering questions and helping with proceduresResponsible for running class gels, PCR, and working with various research organismsLead and coached students during review sessions before exams leading to overall class improvementCoordinated meetings on Zoom, answered questions on an online forum, and designed worksheets for students(when courses moved online during the Spring 2020 quarter)

California, United States

Interacted directly with patients by showing them to exam rooms, keeping them comfortable during exams, and talking with them while waiting for physiciansSupported patients that spoke a variety of different languages and from different cultural backgroundsAssisted RNs with various tasks such as compiling patient packets and organizing chartsGained invaluable knowledge and insight working directly with patients in a medical setting via observing nurse, physician, and patient… Show more Interacted directly with patients by showing them to exam rooms, keeping them comfortable during exams, and talking with them while waiting for physiciansSupported patients that spoke a variety of different languages and from different cultural backgroundsAssisted RNs with various tasks such as compiling patient packets and organizing chartsGained invaluable knowledge and insight working directly with patients in a medical setting via observing nurse, physician, and patient interactions Show less

California, United States

Research goal was to contribute to a growing database of beta-galactosidase mutant enzymes via the transformation of E. Coli.Designed and examined enzyme mutants using FoldIt and Benchling.Learned molecular biology techniques like PCR and DNA extraction.Presented research findings to fellow lab mates and the lab PI.

Master Of Science, Human Genetics And Genomic Data Analysis

Activities and Societies: Genetics Cabinet Vice President GPA 4.0

Bachelor'S Degree, Genetics And Genomics

Department citation in genetics and genomics GPA 3.753