About the Core
The Biorepository Core comprises of a biobank core and biomarker services.
The services provided by the Biorepository Unit include:
- Storage of human cells, tissues, plasma, and other bodily fluid samples
- Provide cultured cell lines, purified genomic DNA, and RNA
- Next-generation sequencing techniques
- Expression arrays
- Epigenomic assays
- Array comparative genomic hybridization
Metabolomics studies for comprehensive profiling can be obtained through the Advanced Technological Core Labs
Check out recent publications using our core:
- Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. Kho J, Tian X, Wong WT, Bertin T, Jiang MM, Chen S...Nagamani SCS, Lee BH. Am J Hum Genet. 2018 Aug 2;103(2):276-287.
- Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC...Stankiewicz P. Am J Hum Genet. 2014 Aug 7;95(2):173-82.
- Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SC, Wells OS...van Haaften G. J Clin Invest. 2016 Aug 1;126(8):2881-92.
- Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M...Lee B, Bellen HJ, Wangler MF; Members of the UDN. PLoS Genet. 2017 Jul 24;13(7):e1006905.
- Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Harel T, Yoon WH, Garone C, Gu S...Bellen HJ, Lupski JR. Am J Hum Genet. 2016 Oct 6;99(4):831-845.
We ask that users acknowledge the use of this core as follows:
"The project described was supported in part by the Clinical Translational Core at Baylor College of Medicine which is supported by the IDDRC grant number P50103555 from the Eunice Kennedy Shriver National Institute of Child Health and Human Development. The content is solely the responsibility of the authors and does not necessarily represent the official views of the Eunice Kennedy Shriver National Institute of Child Health and Human Development or the National Institutes of Health".