Organization profile
Organization profile
The full-service Penn State College of Medicine Genome Sciences Facility provides consultation, instrumentation and services to both Penn State and non-Penn State investigators in genomic, epigenomic and transcriptomic studies.
The variety of instrumentation allows for capabilities ranging from highly focused analysis of candidate SNPs and mRNAs to whole genome, exome, epigenome and transcriptome sequencing. Services are also available for a variety of study designs extending from a few laboratory samples to large clinical projects involving hundreds or thousands of samples. The full bioinformatics service is also available for data analysis
About the Genome Sciences Facility
The facility resides in 5,000 square feet of newly renovated space, encompassing separate "pre-amplification" and "post-amplification" rooms to prevent any contamination of PCR-amplified materials to pre-processed input DNA/RNA samples. Four well-experienced staff members are available for assisting in project operations. In addition, the lab space is available for investigators who need temporary room for sample preparation.
We receive either tissue, DNA/RNA, or customer-generated NGS libraries. We process samples accordingly based on agreement reached during consultations on the design of the experiment. We develop new applications to accommodate state-of-the-art NGS technologies. We conduct sequence read alignment, secondary analysis (quantitation, variant calling, functional annotation, visualization, etc) and follow-up with the interpretation of the results. We provide support for grant writing and hands-on training for students and post-docs in NGS processing.
RRID:SCR_021123
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Collaborations and top research areas from the last five years
Research output
- 268 Citations
- 8 h-index
- 18 Article
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A common variant in the iron regulatory gene (Hfe) alters the metabolic and transcriptional landscape in brain regions vulnerable to neurodegeneration
Marshall Moscon, S., Neely, E., Proctor, E. A. & Connor, J., Sep 2024, In: Journal of neurochemistry. 168, 9, p. 3132-3153 22 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Link opens in a new tab Scopus citations -
Activity of DNA polymerase κ across the genome in human fibroblasts
Torres, M. C., Rebok, A., Sun, D. & Spratt, T. E., Jul 9 2024, In: Proceedings of the National Academy of Sciences of the United States of America. 121, 28, e2403130121.Research output: Contribution to journal › Article › peer-review
Open Access3 Link opens in a new tab Scopus citations -
AUTS2 disruption causes neuronal differentiation defects in human cerebral organoids through hyperactivation of the WNT/β-catenin pathway
Geng, Z., Tai, Y. T., Wang, Q. & Gao, Z., Dec 2024, In: Scientific reports. 14, 1, 19522.Research output: Contribution to journal › Article › peer-review
Open Access5 Link opens in a new tab Scopus citations -
ER stress elicits non-canonical CASP8 (caspase 8) activation on autophagosomal membranes to induce apoptosis
Hattori, T., Fundora, K. A., Hamamoto, K., Opozda, D. M., Liang, X., Liu, X., Zhang, J., Uzun, Y., Takahashi, Y. & Wang, H. G., 2024, In: Autophagy. 20, 2, p. 349-364 16 p.Research output: Contribution to journal › Article › peer-review
Open Access14 Link opens in a new tab Scopus citations -
Heterologous expression of the human wild-type and variant NaV1.8 (A1073V) in rat sensory neurons
Kapur, M. M., Soliman, M., Blanke, E. N., Herold, P. B., Janicki, P. K., Vrana, K. E., Coates, M. D. & Ruiz-Velasco, V., Mar 2024, In: Neurogastroenterology and Motility. 36, 3, e14748.Research output: Contribution to journal › Article › peer-review
Open Access1 Link opens in a new tab Scopus citations -
Identification of differentially expressed genes and splicing events in early-onset colorectal cancer
Marx, O. M., Mankarious, M. M., Koltun, W. A. & Yochum, G. S., 2024, In: Frontiers in Oncology. 14, 1365762.Research output: Contribution to journal › Article › peer-review
Open Access2 Link opens in a new tab Scopus citations -
LC3-associated phagocytosis of neutrophils triggers tumor ferroptotic cell death in glioblastoma
Lu, T., Yee, P. P., Chih, S. Y., Tang, M., Chen, H., Aregawi, D. G., Glantz, M. J., Zacharia, B. E., Wang, H.-G. & Li, W., Jul 1 2024, In: EMBO Journal. 43, 13, p. 2582-2605 24 p.Research output: Contribution to journal › Article › peer-review
Open Access15 Link opens in a new tab Scopus citations -
SP-R210 isoforms of Myosin18A modulate endosomal sorting and recognition of influenza A virus infection in macrophages
Yau, E., Yang, L., Chen, Y., Umstead, T. M., Stanley, A. E., Halstead, E. S., Gandhi, C. K., Yewdell, J. W. & Chroneos, Z. C., Mar 1 2024, In: Microbes and Infection. 26, 3, 105280.Research output: Contribution to journal › Article › peer-review
Open Access3 Link opens in a new tab Scopus citations -
TCF7L1 regulates colorectal cancer cell migration by repressing GAS1 expression
King, C. M., Ding, W., Eshelman, M. A. & Yochum, G. S., Dec 2024, In: Scientific reports. 14, 1, 12477.Research output: Contribution to journal › Article › peer-review
Open Access5 Link opens in a new tab Scopus citations -
The complete sequence and comparative analysis of ape sex chromosomes
Makova, K. D., Pickett, B. D., Harris, R. S., Hartley, G. A., Cechova, M., Pal, K., Nurk, S., Yoo, D. A., Li, Q., Hebbar, P., McGrath, B. C., Antonacci, F., Aubel, M., Biddanda, A., Borchers, M., Bornberg-Bauer, E., Bouffard, G. G., Brooks, S. Y., Carbone, L. & Carrel, L. & 64 others, , Jun 13 2024, In: Nature. 630, 8016, p. 401-411 11 p.Research output: Contribution to journal › Article › peer-review
Open Access65 Link opens in a new tab Scopus citations
Equipment
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COM-GENOME-10X genomics chromium controller
Genome Sciences Biomedical Core FacilityEquipment/facility: Equipment
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COM-GENOME-ABI QuantStudio 12K Flex system
Genome Sciences Biomedical Core FacilityEquipment/facility: Equipment
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COM-GENOME-Agilent 2100 Bioanalyzer
Genome Sciences Biomedical Core FacilityEquipment/facility: Equipment
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COM-GENOME-Blue Pippin size fractionator
Genome Sciences Biomedical Core FacilityEquipment/facility: Equipment
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COM-GENOME-Illumina Novaseq 6000
Genome Sciences Biomedical Core FacilityEquipment/facility: Equipment
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