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Genomics and Computational Biology Core
Robert Morell, Ph.D., Director
The Genomics and Computational Biology Core (GCBC) provides support for massively parallel sequencing (“NexGen”) projects to intramural investigators on a collaborative basis. We maintain and operate massively parallel sequencers (Illumina HiSeq and MiSeq), a 96-capillary sequencer (AB3730xl), a microarray scanner (Illumina iScan), a LifeTech Vii7a realtime PCR machine and a Fluidigm BioMarkHD. We provide library preparation for massively parallel (“nexgen”) sequencing, perform the sequencing reactions, and provide bioinformatics support including analyzing the data and preparing figures for publication. The GCBC will also aid in uploading the data to public repositories and archiving the data.
In FY2015, the GCBC generated and analyzed more than 400 whole-exome libraries. We build custom relational databases of whole-exome sequence variants that aid in the identification of those likely to be pathological. Our primary area of focus is the analysis of gene expression (transcriptomics) and gene regulation (epigenetics) in using RNA-seq and ChIP-seq in tissues and in single cells.
If you are contemplating a project, please contact Robert Morell, Ph.D., as early as possible in the planning stage for more information.
- Burns JC, Kelly MC, Hoa M, Morell RJ, Kelley MW. (2015) Single-cell RNA-Seq resolves cellular complexity in sensory organs from the neonatal inner ear. Nat Commun. 6:8557.
- Raza MH, Mattera R, Morell R, Sainz E, Rahn R, Gutierrez J, Paris E, Root J, Solomon B, Brewer C, Basra MA, Khan S, Riazuddin S, Braun A, Bonifacino JS, Drayna D. (2015) Association between rare variants in AP4E1, a component of intracellular trafficking, and persistent stuttering. Am. J. Hum Genet. 97(5):715-725.
- Mujtaba G, Schultz JM, Imtiaz A, Morell RJ, Friedman TB, Naz S. (2015) A mutation of MET, encoding hepatocyte growth factor receptor, is associate with human DFNB97 hearing loss. J Med Genet. 52(8):548-552.
- Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan AA, Basra MA, Wasif N, Ayub M, Ali RA, Raza SI; University of Washington Center for Mendelian Genomics, Nickerson DA, Shendure J, Bamshad M, Riazuddin S, Billington N, Khan SN, Friedman PL, Griffith AJ, Ahmad W, Riazuddin S, Leal SM, Friedman TB. (2014) Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. Am. J. Hum Genet. 94(1):144-152.
- Lee S, Conrad T, Jones S, Lagziel A, Starost MF, Belyantseva I, Friedman TB, Morell RJ. (2013) A null mutation of Kcna10 causes a vestibular and hearing dysfunction in a mouse model. Hear Res. 300:1-9.
- Jenkinson EM, Rehman AU, Walsh T, Clayton-Smith J, Lee K, Morell RJ, Drummond MC, Khan SN, Naeem MA, Rauf B, Billington N, Schultz JM, Urquhart JE, Lee MK, Berry A, Hanley NA, Mehta S, Cilliers D, Clayton PE, Kingston H, Smith MJ, Warner TT, Black GC, Trump D, Davis JRE, Ahmad W, Leal SM, Riazuddin S, King MC, Friedman TB, Newman WG (2013) Perrault syndrome is caused by recessive mutations of the Mitochondrial ATP-dependent Chambered Protease CLPP. Am J Hum Genet, 92(4):605-613.
- Varma S, Cao Y, Tagne J-B, Lakshminarayanan M, Li J, Friedman TB, Morell RJ, Warburton D, Kotton DN, Ramirez MI. (2012) The transcription factors Grainyhead-like 2 and NK2-homeobox 1 form a regulatory loop that coordinates lung epithelial cell morphogenesis and differentiation. J. Biol. Chem. 287(44):37282-37295.
- Rehman AU, Gul K, Morell RJ, Lee K, Ahmed ZA, Riazuddin S, Ali RA, Shahzad M, Jaleel A, Andrade PB, Khan SN, Khan S, Brewer CC, Ahmad W, Leal SM, Riazuddin S, Friedman TB. (2011) Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. Hum Genet, 130:759-765.
- Borck G, Rehman AU, Lee K, Pogoda H-M, Kakar N, Von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJH, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C (2011) Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am J Hum Genet, 88:127-137.