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Creative Data Solutions (CDS) is a Vanderbilt Shared Resource and has extensive experience in providing effective and robust solutions to challenges pertaining to research data using modern informatics and bioinformatics approaches.
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- Whole-exome sequencing in familial atrial fibrillation.
Weeke P, Muhammad R, Delaney JT, Shaffer C, Mosley JD, Blair M, Short L, Stubblefield T, Roden DM, Darbar D, National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project
(2014) Eur Heart J 35: 2477-83 - High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension.
Cogan JD, Pauciulo MW, Batchman AP, Prince MA, Robbins IM, Hedges LK, Stanton KC, Wheeler LA, Phillips JA, Loyd JE, Nichols WC
(2006) Am J Respir Crit Care Med 174: 590-8 - Activation of cryptic 3' splice sites within introns of cellular genes following gene entrapment.
Osipovich AB, White-Grindley EK, Hicks GG, Roshon MJ, Shaffer C, Moore JH, Ruley HE
(2004) Nucleic Acids Res 32: 2912-24 - Gene trap mutagenesis of hnRNP A2/B1: a cryptic 3' splice site in the neomycin resistance gene allows continued expression of the disrupted cellular gene.
Roshon M, DeGregori JV, Ruley HE
(2003) BMC Genomics 4: 2 - Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function.
Shariat N, Holladay CD, Cleary RK, Phillips JA, Patton JG
(2008) Clin Genet 74: 539-45 - A novel splice site mutation in SMARCAL1 results in aberrant exon definition in a child with Schimke immunoosseous dysplasia.
Carroll C, Hunley TE, Guo Y, Cortez D
(2015) Am J Med Genet A 167A: 2260-4 - Systematic Analysis of Splice-Site-Creating Mutations in Cancer.
Jayasinghe RG, Cao S, Gao Q, Wendl MC, Vo NS, Reynolds SM, Zhao Y, Climente-González H, Chai S, Wang F, Varghese R, Huang M, Liang WW, Wyczalkowski MA, Sengupta S, Li Z, Payne SH, Fenyö D, Miner JH, Walter MJ, Cancer Genome Atlas Research Network, Vincent B, Eyras E, Chen K, Shmulevich I, Chen F, Ding L
(2018) Cell Rep 23: 270-281.e3
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