Photo Credit: NC Department of Commerce

2012 Summer Microarray Workshop

Program

July 22–23, 2012

Renaissance Hotel, Asheville, NC

2 2012 SUMMER MICROARRAY WORKSHOP

Agenda Day One

Sunday, July 22, 2012

12:00 Registration and Welcome

12:30 Database Tutorials Moderator: Sarah South

12:30–1:00 NCBI resources: Genome representation and variant identification Deanna Church, PhD, NCBI 1:00–1:20 NCBI demonstration, discussion, questions 1:20–1:50 Getting the most out of the UCSC genome browser Robert Kuhn, PhD, UCSC 1:50–2:20 UCSC demonstration, discussion, questions 2:20–2:40 ISCA data submission and benefits Erin Riggs, MS, Emory 2:40–3:00 Introduction to CAGdb Hutton Kearney, PhD, Fullerton

3:00 Break

3:15 CNV Interpretation Session Moderator: Karen Tsuchiya

3:15–3:35 ISCA evidence based review Erik Thorland, PhD, Mayo Clinic 3:35–3:50 Using and interpreting case-control studies Laura Conlin, PhD, CHOP 3:50–4:20 CNV interpretation overview Sarah South, PhD, ARUP 4:20–5:00 Selected case presentations and discussion Panel

5:00 Keynote Address

“The Clinical Context of Copy and Structural Variation in the Human Genome”

Stephen W. Scherer, PhD,

McLaughlin Centre and the Centre for Applied Genomics

Hospital for Sick Children, University of Toronto

6:00 Break

6:30 Evening Reception Top of the Plaza, Renaissance Hotel

* For anyone interested in joining a group to enjoy the downtown Asheville nightlife after

the reception, see meeting folder for details.

WIRELESS ACCESS: Wireless internet service is freely available to all meeting participants.

Look for the “ATT Meeting” network and agree to the terms.

2012 SUMMER MICROARRAY WORKSHOP 3

Agenda Day Two

Monday, July 23, 2012

8:00 Breakfast and Welcome

8:30 Homozygosity Session Moderator: Kathy Kaiser-Rogers

8:30–8:50 SNP allele analysis: UPD and then some Hutton Kearney, PhD, Fullerton 8:50-9:10 Interpretation and reporting of consanguinity Catherine Rehder, PhD, Duke 9:10–9:30 Autozygosity mapping Teresa Smolarek, PhD, Cincinnati Children’s 9:30–9:50 Discussion of best practices Panel

9:50 Break

10:00 Mosaicism Session Moderator: Jim Tepperberg

10:00–10:25 Detection and interpretation of mosaicism Bob Daber, PhD, U Penn 10:25–10:50 Complex mosaic cases Laura Conlin, PhD, CHOP 10:50-11:05 Preneoplastic and fetal mosaicism Urvashi Surti, PhD, Magee Women's 11:05–11:30 Interpretive challenges and discussion Panel

11:30 CNV Characterization Session Moderator: Catherine Rehder

11:30–11:50 What and how are we FISHing? Jim Tepperberg, PhD,LabCorp 11:50–12:05 Interpretation of intragenic and intergenic duplications Katie Rudd, PhD, Emory 12:05–12:20 Follow-up and characterization of small duplications

(qPCR strategies) Alka Chaubey, PhD, Greenwood 12:20–12:35 Challenges of small, questionable aberrations Jillene Kogan, MD, PhD, ACL Labs

12:35 Lunch

1:30 Best Practices in Reporting and Follow-up Session Moderator: Bill Allen

1:30–1:50 Overview of current practices Karen Tsuchiya, MD, Seattle Children’s 1:50–2:10 Clinical utility and challenges when reporting variants

of uncertain clinical significance Mike Lyons, MD, Greenwood 2:10–2:30 Follow-up studies after an abnormal array:

Letting the empirical data guide the way Betsy Hirsch, PhD, U Minnesota 2:30–2:50 Incidental findings: Expecting the unexpected Cynthia Powell, MD, UNC CH 2:50–3:25 Discussion Panel

3:25 Break

3:40 Broader Horizons Moderator: Alka Chaubey

3:40–4:00 Oncology applications Daynna Wolff, PhD, MUSC 4:00–4:20 Experience and challenges in prenatal CMA testing Ankita Patel, PhD, Baylor 4:20–4:40 Lessons learned from the 1,000 Genomes Project Charles Lee, PhD, Harvard

4:40 Closing Remarks

4 2012 SUMMER MICROARRAY WORKSHOP

Agenda at a Glance

Sunday, July 22, 2012

12:00 Registration and Welcome

12:30 Database Tutorials

3:00 Break

3:15 CNV Interpretation

5:00 Keynote Address

6:00 Break

6:30 Evening Reception

Monday, July 23, 2012

8:00 Breakfast and Welcome

8:30 Homozygosity

10:00 Break

10:15 Mosaicism

11:30 CNV Characterization

12:45 Lunch

1:30 Best Practices/Follow-up

3:25 Break

3:40 Broader Horizons

4:40 Closing Remarks

Sponsors The 2012 Microarray Workshop Planning Committee expresses sincere appreciation to our sponsors for

both financial and in-kind support that has made this event possible.