Juniper A Lake
- juniper.a.lake@gmail.com
- linkedin.com/in/juniper-lake
- Klamath Falls, Oregon
Juniper Lake is a Staff Bioinformatics Scientist in the Applications Lab at PacBio, where she’s lucky enough to work on an ever-changing assortment of interesting projects alongside very capable people. Suggested conversation topics include chicken diabetes, mountain or gravel biking, drywall mudding tips and tricks, swing dance variations, how many dogs is too many, and one man band setups.
Work Experience
Staff Bioinformatics Scientist
I develop and perform standard and bespoke analyses for customers, collaborators, compatible business partners, and internal teams to support instrument and consumable sales, product validation, and marketing collateral.
- supported development and refinement of tools and workflows for various HiFi applications such as CiFi and microbial isolate sequencing
- contributed to instrument and consumable sales by delivering high-quality data with rapid turnaround times and comprehensible bioinformatics guidance
- performed reproducible, highly documented validation tests in advance of launching new products such as SPRQ-Nx
- showcased the performance of HiFi sequencing by contributing bioinformatics analyses to collaborator publications and generating marketing datasets and visualizations
- built and maintained project management and reporting systems for the applications lab to enable both small- and large-scale sequencing projects such as our collaboration with Basecamp Research on the Trillion Gene Atlas Initiative
Senior Bioinformatics Scientist
- developed a database of human variation from HiFi whole genome sequencing (WGS) in 1000+ samples as part of the Consortium of Long Read Sequencing
- developed tertiary analysis tools (variant annotation and prioritization) to complement HiFi-specific variants callers
- evaluated and guided development of external HiFi-compatible biological interpretation and tertiary analysis tools
- worked with NIST Genome in a Bottle to improve human variant calling benchmarks
Bioinformatics Scientist II
- supported commercial teams by leveraging pilot experiments into instrument sales and marketing collateral
- developed workflows for variant calling, filtering, annotation, and prioritization for rare and inherited disease studies
Graduate Research Assistant
Investigated the etiology and pathogenesis of wooden breast (WB) and white striping (WS), two novel and related complex muscle disorders in commercial broiler chickens that cause major economic losses and welfare concerns worldwide.
- developed computational pipelines and machine learning models for analysis of NGS (DNA & RNA) and proteomics data
- proposed a completely new hypothesis linking recently emerged muscle disorders like WB and WS in chickens with type II diabetes in humans
- designed and conducted experiments involving genome-wide association (GWA), differential gene expression (RNA-Seq), and biomarker identification
Graduate Research Assistant
Studied resistance to and transmission of rose rosette disease (RRD), a fatal and widespread disease of landscape roses caused by the multipartite emaravirus rose rosette virus (RRV) vectored by the eriophyid mite Phyllocoptes fructiphilus.
- managed a large, randomized field trial to screen rose genotypes for resistance to RRD
- tested the effectiveness of biological control methods in mitigating spread of the vector mite P. fructiphilus for potential use in greenhouse grow operations
Publications
Pre-Prints
- Wang Q, Eldfors S, Lee SS, Das D, Al-Inaya Y, Lumaj G, Epstein ET, Shukla S, Ricart E, Dhillon H, Lake J, Hirayama S, Adalsteinsson VA, Drage MG, Gulhan DC, Davis BT, Faden DL. (2026) Liquid biopsy of HPV cell-free DNA enables blood-based early detection and molecular stratification of HPV-associated cancer and precancer stages. medRxiv.
- Abuelanin M, Kaya G, Lake JA, Lambert C, Wu MV, Berendzen KM, Krasheninnikova K, Wood JMD, Solomon NG, Donaldson ZR, Bales KL, Howe K, Korlach J, Manoli D, Tollkuhn J, Dennis MY. (2026) Single-library chromosome-scale diploid assemblies of vole genomes resolve a species-specific duplication implicated in pair bonding. bioRxiv.
Papers
- Devaney JM, Chong JX, Lopes PC, Noya J, Berlyoung AS, YusuffS, Lynch S, Brandon R, Hruska KS, Lochovsky L, Spangler J, McWalter K, Nykamp K, Poll SR, Stergachis AB, Greally J, Kruszka P, Dolzhenko E, Chen X, Robertson AV, Rowell WJ, Lake JA, Carroll A, Kueffner R, Eberle MA, Facio FM, Bamshad MJ, Johnson B. (2026) Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples. The American Journal of Human Genetics 113:5.
- Belyeu JR, Rowell WJ, Lake JA, Holt JM, Kronenberg Z, Saunders CT, Eberle MA. (2025) Complex structural variant visualization with SVTopo. BMC Genomics 26:903.
- Saunders CT, Holt JM, Baker DN, Lake J, Belyeu JR, Kronenberg Z, Rowell WJ, and Eberle MA. (2025) Sawfish: Improving long-read structural variant discovery and genotyping with local haplotype modeling. Bioinformatics 41:4.
- Wagner J, Olson ND, McDaniel J, Harris L, Pinto BJ, Jáspez D, Muñoz-Barrera A, Rubio-Rodríguez LA, Lorenzo-Salazar J, Flores C, Sahraeian SME, Narzisi G, Byrska-Bishop M, Evani US, Xiao C, Lake JA, Fontana P, Greenberg C, Freed D, Mootor MFE, Boutros PC, Murray L, Shafin K, Carroll A, Sedlazeck FJ, Wilson M, Zook JM, and Genome in a Bottle Consortium. (2025) Small variant benchmark from complete assembly of X and Y chromosomes. Nature Communications 16:497.
- Groza C, Schwendinger-Schreck C, Cheung WA, Farrow EG, Thiffault I, Lake J, Rizzo WB, Evrony G, Curran T, Bourque G, and Pastinen T. (2024) Pangenome graphs improve the analysis of structural variants in rare genetic diseases. Nature Communications 15:657.
- Windham MT, Evans T, Collins S, Lake JA, Lau J, Riera-Lizarazu O, and Byrne DH. (2023) Field resistance to Rose Rosette Disease as determined by multi-year evaluations in Tennessee and Delaware. Pathogens 12(3):439.
- Lake JA, Yan Y, Dekkers JCM, Qiu J, Brannick EM, and Abasht B. (2022) Identification of circulating metabolites associated with wooden breast and white striping. PLoS One 17(9): e0274208.
- Lake JA, Dekkers JCM, and Abasht B. (2021) Genetic basis and identification of candidate genes for wooden breast and white striping in commercial broiler chickens. Scientific Reports 11:6785.
- Tomlinson IV MJ, Polson SW, Qiu J, Lake JA, Lee W, and Abasht B. (2021) Investigation of allele specific expression in various tissues of broiler chickens using the detection tool VADT. Scientific Reports 11:3968.
- Lake JA, Brannick EM, Papah MB, Lousenberg C, Velleman SG, and Abasht B (2020) Blood gas disturbances and disproportionate body weight distribution in broilers with wooden breast. Frontiers in Physiology 11:304.
- Lake JA and Abasht B. (2020) Glucolipotoxicity: A proposed etiology for wooden breast and related myopathies in commercial broiler chickens. Frontiers in Physiology 11:169.
- Lake JA, Papah MB, and Abasht B. (2019) Increased expression of lipid metabolism genes in early stages of wooden breast links myopathy of broilers to metabolic syndrome in humans. Genes 10(10):746.
- Wax J, Zhuo Z, Bower A, Cooper J, Gachara S, Kamweru I, Mhora T, Neerukonda SN, Novick D, Winkeler J, Yoder T, and Wisser RJ. (2018) A problem-based learning exercise on food security: understanding the role of genomic variation and plant breeding. Genetics Society of America Peer-Reviewed Education Portal 004.
- Byrne DH, Klein P, Yan M, Young E, Lau J, Ong K, Shires M, Olson J, Windham M, Evans T, and Novick D. (2018) Challenges of breeding rose rosette resistant roses. HortScience 53(5), 604-608.
Book Chapters
- Abasht B., Mignon-Grasteau S., Bottje W., and Lake JA. (2020) “Genetics and genomics of feed utilization efficiency traits in poultry species,” in Advances in Poultry Genetics and Genomics, eds. S. E. Aggrey, H. Zhou, M. Tixier-Boichard, and D. D. Rhoads.. Burleigh Dodds Science Publishing, pp. 183-220.
Dissertations & Theses
- Ph.D. Dissertation. (2021) Characterization of the systemic metabolic dysfunction underlying wooden breast and white striping in chickens. University of Delaware, Research Advisor: Behnam Abasht.
- M.S. Thesis. (2017) Evaluation of rose germplasm for resistance to rose rosette disease and studies of disease transmission and vector control. University of Delaware, Research Advisor: Tom Evans.
- B.S. Honors Thesis. (2013) Smallholder agroforestry programs: An instrument for mitigating supply chain risk. Wharton School of the University of Pennsylvania, Research Advisor: R. Scott Poethig.