November 09, 2009: CHOP CNV Database Featured on OpenHelix Blog

OpenHelix, the premier bioinformatics application resource, features a review and tutorial of CBMi's CHOP CNV resource. Click Here to view blog.

July 21, 2009: New Grant Funded Research:Regulation of Foxp3 Function

Regulation of Foxp3 Function
The goal of the project is to use ChiP-seq technology to understand how Foxp3 and Ikaros regulate T cell differentiation.
Funded By:National Institute of Allergy and Infectious Diseases
5 R01 AI070807 (Wells )
Bioinformatics Core members involved: Juan Carlos Perin

July 21, 2009: New Grant Funded Research:Genetic Modifiers of Liver Disease Severity in Alagille Syndrome

Genetic Modifiers of Liver Disease Severity in Alagille Syndrome
The goal of this project is to identify clinically relevant modifiers of the severity of hepatic disease in patients with Alagille Syndrome (AGS).
Funded By: National Institute of Diabetes and Digestive and Kidney Diseases
1R01DK081702-01A1 (Spinner)
Bioinformatics Core members involved:Xiaowu Gai, Hongbo Xie

July 21, 2009: New Grant Funded Research:Islet Dysregulation in Infants with Congenital Hyperinsulinism

Islet Dysregulation in Infants with Congenital Hyperinsulinism
Congenital hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in infants and children. Although 6 such loci have been found, many children with HI have no identifiable mutation of these genes. Our hypothesis is that hyperinsulinism in these groups of children involves both novel molecular defects of known loci, as well as, previously unrecognized new genetic loci. The long-term goal of the project is to identify genotype-phenotype correlations in these disorders to guide diagnosis and treatment and to uncover new forms of congenital hyperinsulinism.
Funded By: National Institute of Diabetes and Digestive and Kidney Diseases
2R37DK056268-1109 (Stanley)
Bioinformatics Core members involved:Juan Carlos Perin

July 10, 2009: New Publication: BiC Leads Research on High-Resolution Mapping and Analysis of Copy Number Variations in the Human Genome

Shaikh TH*, Gai X*, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'arcy M, Franckelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield J, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SF, White PS**, Hakonarson H.**. High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications. Genome Res. 2009 Jul 10. [Epub ahead of print] (* equal contribution; ** corresponding author)

June 23, 2009: New Publication: BiC Leads Research on Rare Structural Variants Found in Attention-Deficit Hyperactivity Disorder

Elia J*, Gai X*, Xie H, Perin JC, Geiger E, Glessner JT, D'arcy M, deBeradinis R, Frackelton E, Kim C, Lantieri F, Muganga M, Wang L, Takeda T, Rappaport EF, Grant SFA, Berrettini W, Devoto M, Shaikh TH, Hakonarson H, Peter S. White. Rare Structural Variants found in Attention-Deficit Hyperactivity Disorder are Preferentially Associated with Neurodevelopmental Genes. Mol Psychiatry.2009 Jun 23. [Epub ahead of print] (* equal contribution, **corresponding author)

May 27, 2009: The Bioinformatics Core Helped to Understand Why the Flu May Turn Deadly

BiC members contributed to a recent research study entitled "Immune dysregulation in severe influenza". The study was published prior to the recent Swine Flu outbreak, and was referred to in a news article examining why the Swine Flu affects some individuals more severely than others. Please go here to see this news article.