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joshbridgers/README.md

Joshua Bridgers, MSc

Summary

Lead bioinformatician and subject matter expert on next‑generation sequencing for distinguished scientist, Dr. Aly Karsan. 10+ years specializing in petabase‑scale high‑throughput NGS production not limited to pipeline development, quality assurance, security, and regulatory compliance.

joshbridgers@gmail.com   @joshbridgers   joshbridgers

Publications

Gharaee N, ..., Bridgers J, ..., Karsan A. Haploinsufficiency of miR-143 and miR-145 reveal targetable dependencies in resistant del(5q) myelodysplastic syndrome. Clinical Cancer Research. (In Review).

Kincross H, ..., Bridgers J, ..., Karsan A. Loss of FBXO11 function establishes a stem cell program in acute myeloid leukemia through dysregulation of the mitochondrial protease LONP1. Nature Communications. (In Review). bioRxiv. doi: doi.org/10.1101/2022.09.10.507366

Sabatini P, Bridgers J, ..., Karsan A. Multisite clinical cross‑validation and variant interpretation of a next generation sequencing panel for lymphoid cancer prognostication. Journal of Clinical Pathology. Jan 2024. jcp‑2023‑209262. doi: 10.1136/jcp‑2023‑209262.

Bridgers J, Alexander K, Karsan A. Operationalizing Quality Assurance for Clinical Illumina Somatic Next‑Generation Sequencing Pipelines. Journal of Molecular Diagnostics. Dec 2023. 10:S1525‑1578(23)00288‑X. doi: 10.1016/j.jmoldx.2023.11.006.

Lau T, Jalali Z, Bridgers J, Karsan A. The Neoantigen Landscape of the Coding and Noncoding Cancer Genome Space. Journal of Molecular Diagnostics. Jun 2022. 24(6):609‑618. doi: 10.1016/j.jmoldx.2022.02.004.

Koko M, ..., Canadian Epilepsy Network, Epi4K Consortium, Epilepsy Phenome/Genome Project, EpiPGX Consortium, EuroEPINOMICS‑CoGIE Consortium. Association of ultra‑rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study. Epilepsia; Early View; 2022 Jan 22. doi: doi.org/10.1111/epi.17166.

Lerche H, ..., EuroEPINOMICS‑CoGIE Consortium, EpiPGX Consortium, Epi4K Consortium/Epilepsy Phenome/Genome Project. Intestinal‑Cell Kinase and Juvenile Myoclonic Epilepsy. N Engl J Med. 2019 Apr 18;380(16):e24. doi: 10.1056/NEJMc1805100.

Groopman EE, ..., Bridgers J, ..., Gharavi AG. Diagnostic Utility of Exome Sequencing for Kidney Disease. N Engl J Med. 2019 Jan 10;380(2):142‑151. doi: 10.1056/NEJMoa1806891. Epub 2018 Dec 26.

Zhu X, ..., Bridgers J, ..., Goldstein DB. A case‑control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. PLoS Genet. 2017 Nov 29;13(11):e1007104. doi: 10.1371/journal.pgen.1007104.

Petrovski S, ..., Bridgers J, ..., Goldstein DB. An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis. Am J Respir Crit Care Med. 2017 Jul 1;196(1):82‑93. doi: 10.1164/rccm.201610‑2088OC.

Epi4K Consortium, EuroEPINOMICS‑RES Consortium, Epilepsy Phenome Genome Project. Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data. Eur J Hum Genet. 2017 Jun;25(7):894‑899. doi: 10.1038/ejhg.2017.61.

Epi4K consortium, Epilepsy Phenome/Genome Project. Ultra‑rare genetic variation in common epilepsies: a case‑control sequencing study. Lancet Neurol. 2017 Feb;16(2):135‑143. doi: 10.1016/S1474‑4422(16)30359‑3.

Blazejewski T, ..., Bridgers J, ..., Parkinson J. Systems‑based analysis of the Sarcocystis neurona genome identifies pathways that contribute to a heteroxenous life cycle. mBio. 2015 Feb 10;6(1):e02445‑14. doi: 10.1128/mBio.02445‑14.

Education

  • Master of Science, University of Georgia, 2009
    • Thesis: The Effect of Iron on Message Expression in Anopheles gambiae 4a3b cells
  • Bachelor of Science, Biochemistry and Molecular & Cellular Biology, 2006

Popular repositories Loading

  1. OperationalizeQA OperationalizeQA Public

    Example implementation of parsing for key QC metrics from common bioinformatics pipeline on human cancer samples.

    Shell 1

  2. joshbridgers joshbridgers Public