•  Gene expression •  Genome-wide Association Studies

(GWAS) •  Gene Regulation •  Epigenetics •  Comparative Genomics

Ingo Rafa

HongKai Kung-Yee Tom

Ciprian

Jef Boeke Andy Feinberg

Aravinda Chakravarti

Chi Dang

Malaria Institute Microarray core

Genetic Epi

David Valle

Giovanni & Co David Sidransky

Vasan S Yegnasubramanian

Bert Vogelstein Steve Baylin

Grace Wahba Wing Wong

Stanley Institute

Terry Speed

Bioconductor

J Pevsner

Joe Coresh

Biostatistics

•  Hongkai Ji, Hui Jiang, Wenxiu Ma, David S. Johnson, Richard M. Myers and Wing Hung Wong (2008) An integrated software system for analyzing ChIP-chip and ChIP-seq data. Nature Biotechnology. 26: 1293-1300.

•  Steven A. Vokes, Hongkai Ji, Wing Hung Wong and Andrew P. McMahon (2008) A genome-scale analysis of the cis-regulatory circuitry underlying sonic hedgehog mediated patterning of the mammalian limb. Genes & Development. 22: 2651-2663.

•  Scharpf RB, Parmigiani G, Pevsner J, Ruczinski I (2008). Hidden Markov Models for the Assessment of Chromosomal Alterations using High-throughput SNP Arrays . Annals of Applied Statistics, 2(2): 687-713.

•  Scharpf RB, Ting JC, Pevsner J, Ruczinski I (2007). SNPchip: R Classes and Methods for SNP Array Data . Bioinformatics, 23(5): 627-8.

•  Sull JW, Liang KY, Hetmanski JB, Zarfas K, Fallin MD, Ingersoll RG, Park JW, Wu-Chou YH, Chong S, Cheah F, Yeow V, Park BY, Jee SH, Jabs EW, Redett R, Ruczinski I, Scott AF, Beaty TH (2008). Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populations. Genetic Epidemiology 32: 505-512.

•  Irizarry RA, Ladd-Acosta C, Wen B, Wu Zhijin, Montana C, Oyango P, Cui H, Gabo K, Rongione M, Webster M, Ji H, Potash J, Sabunciyan S, Feinbert A (2008) Genome-wide methylation analysis of human colon cancer reveals similar hypo-and hypermethylation at conserved tissue-specific CpG island shores. Nature Genetics (To appear)

•  Irizarry RA, Ladd-Acosta C, Carvalho B, Wu H, Brandenburg SA, Wen B, Feinberg AP (2008) Comprehensive High-throughput Arrays for Restriction endonuclease-based Methylation (CHARM). Genome Research. 18(5):780-790.

More than 40 collaborative papers in 2007 and 2008

•  Novel Statistical Methods for Gene-Environment Interactions in Complex Diseases PI: Kung-Yee and Ingo (with Ciprian and Tom)

•  Hierarchical Models in Health Services Research PI: Tom (with Ingo) •  Software for the Statistical Analysis of Microarray. PI: Rafa •  Preprocessing and Analysis Tools for Contemporary Microarray Applications PI: Rafa (with Ingo,

Ciprian, and Hongkai)

Collaborative •  Bioconductor: An Open Computing Resource for Genomics PI: Robert Gentleman •  Center for the Epigenetics of Common Human Diseases PI: Andrew Feinberg •  Genetic study of schizophrenia and bipolar PI: Ann Pulver •  Genetic study of obsessive and compulsive disorder (OCD) PI: Gerry Nestadt •  International genetic study of oral cleft PI: Terri Beaty •  Institute for Clinical and Translational Research. PI: Daniel Ford •  Genome-Wide Association Studies of Asthma In Populations Of African Descent PI: Kathleen

Barnes •  DNA Repair, Skin Cancer and Overall Cancer Risk PI: Anthony Alberg •  Genotypic Determinants of Aspirin Response in High Risk Families PI: Lewis Becker

Provost Initiatives •  Nucleating a discipline: Creating leadership in bioinformatics and computational biology PI: Sarah

Wheelan •  The Johns Hopkins Individualized Medicine Program. PI: David Valle

•  Genome-wide Association Studies

•  Epigenetics

•  Gene Regulation

TACATAGCCATCGGTANGTACTCAATGATGATA Genomic DNA:

ATCGGTAGCCATTCATGAGTTACTA PM probe for Allele A:

ATCGGTAGCCATCCATGAGTTACTA PM probe for Allele B:

A SNP

G

Affymetrix SNP chip terminology

Genotyping: answering the question about the two copies of the chromosome on which the SNP is located:

Is a person AA , AG or GG at this Single Nucleotide Polymorphism?

Transcription factors Other genes Activation Repression Other Interactions

Gene1 TACTACCACCCACAACATAATAAAATCTAA

TF1 TF2

Gene2 TTAATAAAATACCACCCACAACCTAAGGAT

TF1

TF1

TF2

TF2

TF3

TF3 Gene3

A

B

C

A

B

C

A

B

C

Mean(X1)-Mean(X2)

t-statistic

t-statistic, variance shrinking

Moving Average

Vokes SA, Ji H, Wong WH, McMahon AP et al. Development 2007, 134:1977-1989

GTATGTACTTACTATGGGTGGTCAACAAATCTATGTATGA

TAACATGTGACTCCTATAACCTCTTTGGGTGGTACATGAA

CTGGGAGGTCCTCGGTTCAGAGTCACAGAGCAGATAATCA

TTAGAGGCACAATTGCTTGGGTGGTGCACAAAAAAACAAG

AACAGCCTTGGATTAGCTGCTGGGGGGGTGAGTGGTCCAC

ATCAGAATGGGTGGTCCATATATCCCAAAGAAGAGGGTAG

TF

TF

TF

TF

TF

TF

Peak Detection Working Group

Hongkai Ji Hao Wu

Rafael Irizarry Ciprian Crainiceanu

Christopher Barr

In the field of functional genomics,

•  Perhaps it is not enough to define ourselves only as statisticians.

•  We are an integral part of scientific community and we should also see our role in driving the development of science.