ASHG 2014 Schedule

10/15/2014 Schedule of Events | ASHG 2014 Annual Meeting

http://www.ashg.org/cgi-bin/2014/ashg14SOE.pl?P=Y 1/16

Schedule of Events Ancillary and satellite meetings are reunion/university receptions or small meetings of editorial boards, committees, etc., and are not official ASHG functions.(*) Asterisk denotes meetings that are by invitation or pre-registration only. Otherwise, attendance may be assumed to be open to all registrants.

Listings in bold-face indicate the event is an ASHG-sponsored scientific session, event or activity open to all scientific registrants.Please note some events have a separate registration and require a ticket for admittance.

Indicates ASHG Committee Meetings. Indicates Education-related events. This track highlights sessions, events, and workshops falling into two categories. The first category encompasses research and best practices in geneticseducation at all levels. The second category includes content presented at a level accessible to those without specific expertise in thesession/event/workshop topic.Indicates Trainee-related events. This track highlights sessions, events, and workshops focused on skills development, career development, and networking that may be of particularinterest to trainees (graduate student, post doc, fellow, resident).Indicates Clinical-related events. This track highlights sessions, events, and workshops focused on clinical aspects of human genetics.Indicates Social Issues-related events. This track highlights sessions, events, and workshops focused on social, legal, and ethical issues in basic and clinical human genetics.Indicates Exhibitor Education Events and Exhibit Theater Events. The Exhibitor Events Track highlights educational programming by companies exhibiting at ASHG 2014. Topics range from presentation of newresearch, case studies, and best practices.

All Sessions/EventsASHG Sponsored

Scientific Sessions/EventsAncillaryEvents Education Track Trainee Track Clinical Track Social Issues Track Exhibitor Track

Thursday, October 16 Sunday, October 19

9:00 AM - 6:00 PM American Society for Bioethics and Humanities (ASBH) 16th Annual MeetingMeeting begins Thursday, October 16 and ends Sunday, October 19 (separateregistration required)

Hilton Bayfront San DiegoCheck website for details

Friday, October 17(*) Asterisk denotes meetings that are by invitation or pre-registration only. Otherwise, attendance may be assumed to be open to all registrants.

*7:00 AM - 4:30 PM FSH Society Facioscapulohumeral Muscular Dystrophy [FSHD] 2014 InternationalResearch Consortium & Research Planning Meeting Day 1

Marriott Marquis & MarinaSan Diego Ballroom A, NorthTower, Lobby Level

8:15 AM - 2:40 PM ASHG High School Workshop (for local San Diego students and teachers.)

Convention CenterRoom 25ABC, Upper Level

8:30 AM - 5:30 PM UCSD Institute for Genomic Medicine Symposium: Genomics of the Single Cell(separate registration required)

Sanford Consortium forRegenerative Medicine,University of California, SanDiego

*9:00 AM - 1:00 PM ESHG Executive Board Meeting

Convention CenterRoom 27B, Upper Level

*3:00 PM - 8:00 PM ASHG Board of Directors Meeting #1

Marriott Marquis & MarinaCoronado, South Tower, Level4



*4:00 PM - 5:45 PM ABMGG Finance Committee Meeting

Marriott Marquis & MarinaVista, South Tower, Level 1

*6:00 PM - 9:00 PM ABMGG Accreditation Committee Meeting

Marriott Marquis & MarinaOceanside, South Tower, Level1

*6:00 PM - 9:00 PM ABMGG Credentials Committee Meeting

Marriott Marquis & MarinaLeucadia, South Tower, Level 1

*6:00 PM - 9:00 PM ABMGG MOC Committee Meeting


Saturday, October 18(*) Asterisk denotes meetings that are by invitation or pre-registration only. Otherwise, attendance may be assumed to be open to all registrants.

*7:00 AM - 4:30 PM FSH Society Facioscapulohumeral Muscular Dystrophy [FSHD] 2014 InternationalResearch Consortium & Research Planning Meeting Day 2

Marriott Marquis & MarinaSan Diego Ballroom A, NorthTower, Lobby Level

*7:30 AM - 4:00 PM ACMG Board Meeting

Marriott Marquis & MarinaPoint Loma, South Tower,Level 1

*7:30 AM - 4:30 PM ABMGG Board of Directors Meeting


8:00 AM - 4:00 PM ASHG Undergraduate Faculty Genetics Education Workshop Separate advance registration required.

Convention CenterRoom 24AB, Upper Level

8:00 AM - 5:00 PM Exhibitor Registration Open

Convention CenterLobby D, Ground Level

*8:30 AM - 3:00 PM ASHG Board of Directors Meeting #2

Convention CenterRoom 26A, Upper Level

8:30 AM - 3:45 PM HGVS: Germline and Somatic Mosaicism (separate registration required)

Embassy Suites DowntownRoom TBD

8:30 AM - 4:30 PM The 37th annual meeting of the Society of Craniofacial Genetics andDevelopmental Biology. (separate registration required).

Sanford Consortium forRegenerative MedicineDuane Roth Auditorium

*9:00 AM - 12:00 PM Philippine Genome Center Scientific Advisory Committee Meeting

Convention CenterRoom 21, Upper Level

10:00 AM - 5:00 PM Speaker Presentation/Upload Room Open Speakers are required to upload their presentations here. We recommenduploading at least 3 hours before your presentation time.

Convention CenterRoom 33C, Upper Level

10:30 AM - 2:30 PM ASHG/ASBH Joint Symposium: From Clinical to Community Sequencing: EmergingEthical, Legal and Social Issues in Genomics Space is limited. Admission on a first-come first-serve basis.


12:00 PM - 6:00 PM Scientific Registration Open Convention Center

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Lobby D, Ground Level

*12:00 PM - 4:00 PM ASHG Program Committee Meeting #1


12:00 PM - 4:00 PM Ataxia-Telangiectasia, DNA Repair and Genome Instability Open Workshop (forinformation contact: [email protected] or [email protected])


1:00 PM - 4:00 PM Getting the Most from the Human Genome: Understanding Updates and MakingUse of Improvements in the Reference Assembly


2:30 PM - 4:00 PM ASHG Interactive Workshop: Introduction to Accessing and Applying

ENCODE Data: An Interactive Workshop Separate advance ticket purchase required.


2:30 PM - 4:00 PM ASHG Interactive Workshop: Ensembl Highlights (Intermediate/Advanced

Workshop) Separate advance ticket purchase required.


2:30 PM - 4:30 PM Baylor College of Medicine Exhibitor Education Event


5:00 PM - 5:30 PM 1.

ASHG Presidential Address: The Time of Our Lives Cynthia Casson Morton, Brigham and Women's Hospital/Harvard MedicalSchool

Convention CenterHall B1, Ground Level

5:30 PM - 6:50 PM 2.

Plenary Abstracts Featured Presentation I


*7:00 PM - 8:00 PM ACMG Committee Chairs Meeting


*7:00 PM - 9:00 PM American Journal of Medical Genetics Editorial Board Meeting

Marriott Marquis & MarinaCatalina, South Tower, Level 4

7:00 PM - 9:00 PM UCLA Reception

Marriott Marquis & MarinaRancho Santa Fe, North Tower,Level 1

7:15 PM - 8:45 PM Navigating the Thorny Landscape on a Path from Newborn Screening to GenomeSequencing: A Play Brings to Life the Drama of DNA RSVP in advance to Lynn Bush: [email protected]

Marriott Marquis & MarinaMarina G, South Tower, Level 3

7:30 PM - 9:30 PM #ASHG14 Tweetup Join your fellow #ASHG14 tweeters for drinks and conversation after thePresidential Address and Plenary Abstract Presentations.

The Tipsy Crow; 770 Fifth Ave

7:30 PM - 11:30 PM SickKids Genetics & Genome Biology Program Reception Marriott Marquis & MarinaMarina F, South Tower, Level 3

Sunday, October 19(*) Asterisk denotes meetings that are by invitation or pre-registration only. Otherwise, attendance may be assumed to be open to all registrants.

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7:00 AM - 8:00 AM ASHG Trainee Peer Networking Breakfast Separate advance ticket purchase required.


7:00 AM - 5:00 PM Scientific Registration Open




*7:00 AM - 8:00 AM ASHG Communications Committee Meeting


*7:00 AM - 8:00 AM ACMG Program Committee Meeting


8:00 AM - 9:30 AM 3.

Distinguished Speakers Symposium: Separating Signal from Noise




10:00 AM - 12:00 PM Concurrent Invited Session I:

Convention Center

4.

Beyond Canonical CNVs: Interpreting Other Forms of Genomic StructuralVariation

Room 6CF, Upper Level

5. Beyond Mendel: Complexities of Simple Mendelian Disorders Room 20A, Upper Level

6. Crowdsourced Genetics Room 6AB, Upper Level

7.

Curiouser and Curiouser! Navigating Career Transitions and Challenges inGenetics

Room 20BC, Upper Level

8. Targeted Drug Therapies for Progressive Genetic Disorders Room 6DE, Upper Level

9.

The X-Factor of Complex Disease: From Evolution to Association Studies ofthe X Chromosome

Room 30, Upper Level

10. Using Zebrafish to Model Human Genetic Disease Variation Room 29, Upper Level

11.

Whole Genome/Exome Sequencing: Patient Expectations, Literacy, andPreferences for Genomic Information

Room 20D, Upper Level

10:00 AM - 5:00 PM How Do You Think Genetic Research Will Affect the Future? The Genetic PortraitProject An Interactive Art Initiative Exhibit

Convention CenterLobby 20, Upper Level

11:00 AM - 7:00 PM Exhibits Open

Convention CenterExhibit Hall E, Ground Level

11:00 AM - 7:00 PM Posters Open for Viewing


11:00 AM - 7:00 PM ASHG/FASEB Career Resources Open Coaches will be available to give attendees free career guidance, provideinterview tips, and critique resumes or CVs. Stop by to make your appointment.

Convention CenterBooth 1533, Exhibit Hall E,Ground Level

11:00 AM - 7:00 PM ASHG Trainee Lounge




12:00 PM - 1:30 PM Lunch Break, Open Viewing for Posters and Exhibits Convention CenterExhibit Hall E, Ground Level

12:00 PM - 1:30 PM ASHG Trainee-Mentor Luncheon Separate advance ticket purchase required.


12:00 PM - 1:30 PM ASHG Trainee Professional Development Program (Sunday Session) Space is limited. Admittance on a first-come, first-served basis.


12:00 PM - 1:30 PM ASHG Event: Diagnostic Challenges: Review and Discussion of Unique Cases

Separate advance ticket purchase required. ASHG acknowledges Children'sHospital of Los Angeles for providing a grant in support of this session.


12:00 PM - 1:30 PM ASHG Interactive Workshop: Epigenomic Annotation of Genetic Variants

Using The Washington University Epigenome Browser Separate advance ticket purchase required.


*12:00 PM - 1:30 PM IFHGS Board Meeting


*12:00 PM - 1:30 PM ACMG PPG Committee Meeting


*12:00 PM - 1:30 PM Human Molecular Genetics Editorial Board Meeting


*12:00 PM - 1:30 PM MGM Editorial Board Meeting - Elsevier


12:00 PM - 1:15 PM Illumina Exhibitor Education Event #1: From Sample to Answer ComprehensiveNext-Generation Sequencing Solutions to turn Genomic Information into DiseaseInsight


12:00 PM - 1:30 PM Affymetrix Exhibitor Educational Event: Use of microarrays in reproductive healthstudies


12:00 PM - 1:30 PM Ambry Genetics Exhibitor Education Event: Diagnostic Exome Sequencing InNeonatal Patients: A Rapid Option for Diagnosis and Management in a FragilePatient Population


12:00 PM - 1:30 PM Ayasdi Exhibitor Education Event: Application of Topological Data Analysis (TDA)to Precision Medicine


12:00 PM - 1:30 PM Bio-Rad Laboratories Exhibitor Education Event: Exploring Depths of the HumanGenome With Droplet Digital PCR


12:00 PM - 1:30 PM Building your Genomics Business with SBIR/STTR Support from NHGRI and theNIH


12:00 PM - 1:30 PM LGC Exhibitor Education Event: Functional Validation of Genetic Variation inPopulation Genomics


12:00 PM - 1:30 PM Macrogen Exhibitor Education Event: Next Generation Sequencing: A Key to NewDiscoveries


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12:00 PM - 1:30 PM Roche Diagnostics Exhibitor Education Event: A Glimpse into the Future of Next-Generation Sequencing


12:00 PM - 1:30 PM Personalis Exhibitor Education Event: Advancing Genome Based Discovery andDiagnostics in Cancer, Cardiology and Rare Disease


12:00 PM - 1:30 PM Omicia Next-Gen Sequencing Analysis Workshop: Accelerating NGS Discoverywith Omicia Opal and VAAST 2.0

Marriott Marquis & MarinaMission Hill, South Tower,Level 3

12:15 PM - 1:00 PM Exhibit Theater: Quantifying the public health burden of foodborneextraintestinal pathogenic Escherichia coli, Beckman Coulter Genomics


1:30 PM - 3:30 PM Concurrent Platform Session A:

Convention Center

12.

Patterns and Determinants of Genetic Variation: Recombination, Mutation,and Selection

Hall B1, Ground Level

13. Genomic Studies of Autism Room 6AB, Upper Level

14. Statistical Methods for Pedigree-Based Studies Room 6CF, Upper Level

15. Prostate Cancer: Expression Informing Risk Room 6DE, Upper Level

16. Variant Calling: What Makes the Difference? Room 20A, Upper Level

17.

New Genes, Incidental Findings and Unexpected Observations Revealed byExome Sequencing


18. Type 2 Diabetes Genetics Room 20D, Upper Level

19. Genomic Methods in Clinical Practice Room 28, Upper Level

20. Genetics and Mechanisms in Neurological Disorders Room 29, Upper Level

21. Developmental Genetics: Immunodeficiencies and Autoimmune Disorders Room 30, Upper Level

2:30 PM - 3:45 PM Genetics in Motion Movie: Twitch with Kristen Powers This movie explores the impact of genetic testing on a young person whosemother has Huntingtons Disease and examines the basic science of the diseaseitself.


3:45 PM - 4:30 PM Exhibit Theater: New International Guidelines for the Management andTreatment of Morquio A Syndrome, BioMarin Pharmacuticals


4:00 PM - 6:00 PM Poster Session I (Sunday Poster Authors Present)


4:45 PM - 5:30 PM Exhibit Theater: Solutions to Help Maximize Throughput for High-Capacity NextGeneration Sequencing,Beckman Coulter Genomics


5:45 PM - 6:30 PM Exhibit Theater: Best Practices in Manual Pipetting, Artel


6:00 PM - 7:00 PM ASHG Welcome Reception


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6:30 PM - 7:30 PM 2014 Gruber Genetics Prize Ceremony and Lecture New time and format for 2014.


6:00 PM - 7:30 PM American Board of Bioanalysis (ABB) Board Certification in Molecular DiagnosticsReception


*6:00 PM - 9:00 PM ACMG Lab QA Biochemical Genetics Subcommittee Meeting


*6:00 PM - 9:00 PM ACMG Lab QA Cytogenetics Subcommittee Meeting


*6:00 PM - 9:00 PM ACMG Lab QA Molecular Genetics Committee Meeting


*6:30 PM - 7:30 PM Beckman Coulter Genomics Customer Reception

Marriott Marquis & MarinaNewport Beach, South Tower,Level 4

*6:30 PM - 8:00 PM Human Mutation Editorial Board Meeting


7:00 PM - 10:00 PM Life Technologies In Theatre Lecture Series

Reading Cinemas Gaslamp 15;701 5th Ave

7:15 PM - 9:00 PM Association of Chinese Geneticists in America (ACGA) Annual Meeting

Marriott Marquis & MarinaMarina F, South Tower, Level 3

7:30 PM - 9:30 PM University of Pittsburgh Reunion

Caf Sevilla353 Fifth Avenue

7:30 PM - 9:30 PM Duke University Human Genetics Alumni Reception Marriott Marquis & MarinaLa Costa, South Tower, Level 4

7:45 PM - 9:30 PM 1000 Genomes Data Tutorial


Monday, October 20(*) Asterisk denotes meetings that are by invitation or pre-registration only. Otherwise, attendance may be assumed to be open to all registrants.

6:30 AM - 8:00 AM Genzyme CME Program: Small Molecule Therapy for Gaucher Disease






*7:00 AM - 9:00 AM Human Variome Project International Scientific Advisory Committee Meeting

Residence Inn San DiegoDowntown/Gaslamp Quarter1st Floor

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*7:00 AM - 8:00 AM ACMG Education Committee Meeting




8:00 AM - 8:25 AM 22.

Plenary Abstracts Featured Presentation II


8:30 AM - 8:45 AM 23.

ASHG Award for Excellence in Human Genetics Education Presentation


8:45 AM - 9:00 AM 24.

ASHG Victor A. McKusick Leadership Award Presentation


9:00 AM - 9:30 AM 25.

ASHG Curt Stern Award Presentation


9:30 AM - 10:00 AM 26.

ASHG William Allan Award Presentation








10:00 AM - 5:00 PM How Do You Think Genetic Research Will Affect the Future?The Genetic PortraitProject An Interactive Art Initiative Exhibit




10:30 AM - 12:30 PM Concurrent Platform Session B:

Convention Center

27. Cloudy with a Chance of Big Data Hall B1, Ground Level

28. Architecture and Impact of Human Knockout Alleles Room 6AB, Upper Level

29. Population Structure, Admixture, and Human History Room 6CF, Upper Level

30. Neurogenetics: From Gene to Mechanism (I) Room 6DE, Upper Level

31. Cardiovascular Genetics I: Single Gene Stories Room 20A, Upper Level

32. Molecular Insights into Mendelian Disorders Room 20BC, Upper Level

33. Genomic Alterations of Tumors Room 20D, Upper Level

34. Metabolic Disorders: New Diagnostics and Pathogenic Insights Room 28, Upper Level

35. Looking between the Streetlamps: Variant Phasing and Imputation Room 29, Upper Level

36. Chromatin, Gene Regulation and Expression Room 30, Upper Level

12:30 PM - 2:00 PM Lunch Break, Open Viewing for Posters and Exhibits


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12:30 PM - 2:00 PM ASHG Trainee Professional Development Program (Monday Session) Space is limited. Admission on a first-come, first-served basis.


12:30 PM - 2:00 PM ASHG Interactive Workshop: Advanced Features of the UCSC Genome

Browser Separate advance ticket purchase required.


12:30 PM - 2:00 PM Behind the Scenes: Mock NIH Study Section Workshop Separate advance ticket purchase required.


12:30 PM - 2:00 PM ASHG Interactive Workshop: iSeqTools to De-mistify the Cloud and

Genomics Analysis for Researchers Seeking Ways to Analyze High-ThroughputDNA Sequencing Data Separate advance ticket purchase required.


*12:30 PM - 2:00 PM AJHG Editorial Board Meeting


*12:30 PM - 2:00 PM ASHG Information and Education Committee Meeting


*12:30 PM - 2:00 PM ASHG/NHGRI Public Policy Fellows Luncheon


*12:30 PM - 2:00 PM ACMG Economics of Genetic Services Committee Meeting


*12:30 PM - 2:00 PM ACMG Foundation Development Committee Meeting

Marriott Marquis & MarinaEncinitas Room, South Tower,Level 3

*12:30 PM - 2:00 PM Genetic Epidemiology Editorial Board Meeting


12:30 PM - 2:00 PM Bina Technologies Exhibitor Education Event: Fast, Accurate, Easy to Use DataAnalysis Solutions


12:30 PM - 2:00 PM NanoString Technology Exhibitor Education Event: A Proven Technology for theRapid Translation of Genomic Discovery to a Clinically Validated Assay:Multiplexed, Amplification-Free, Single-Molecule Digital Counting of DNAs, RNAsand Proteins


12:30 PM - 2:00 PM Affymetrix Exhibitor Education Event: Higher genomic coverage for increasedscientific insights


12:30 PM - 2:00 PM Agilent Technologies Exhibitor Education Event: Expert Insights: AdvancingCancer and Constitutional Research with High Sensitivity Genomic Solutions forAccurate Variant Detection


12:30 PM - 2:00 PM BGI Exhibitor Education Event: Human Disease Research and Consumer Genomicsin the Era of Next-Gen Sequencing


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12:30 PM - 2:00 PM BioNano Genomics Exhibitor Education Event: Exploring the Dark Matter of theGenome: Uncovering the Full Impact of Structural Variation in Cancer and theHuman Genome


12:30 PM - 2:00 PM Cartagenia, Inc. Exhibitor Education Event: Combining NGS and CNV Assays:Diagnostic Interpretation and Reporting for Prenatal, Postnatal and OncologyApplications


12:30 PM - 2:00 PM Clinical Genome (ClinGen) Resource Program Luncheon


12:30 PM - 2:00 PM DNANexus Exhibitor Education Event: Addressing the Challenges in GenomicAnalysis and Data Management


12:30 PM - 2:00 PM DNASTAR Exhibitor Education Event: Gene Panel Workflows in LasergeneGenomics Suite


12:30 PM - 2:00 PM Illumina Exhibitor Education Event #2: User Experiences: TruSight Myeloidresearch panel & the 1st NGS IVD Assay for Cystic Fibrosis Testing


12:30 PM - 2:00 PM Life Technologies a Thermo Fisher Scientific Brand Exhibitor Education Event:Digital & qPCR Applications to Accelerate Human Disease Research


12:30 PM - 2:00 PM New England Biolabs Exhibitor Event: NEBNext NGS sample prep: NewDevelopments and Applications


12:30 PM - 2:00 PM Nextcode Health Exhibitor Education Event: One Proven Platform Enables theUse of NGS Data Both for Clinical Diagnostic Interpretation and Massive Cohort-based Discovery


12:30 PM - 2:00 PM Omicia Exhibitor Education Event: Accelerating Interpretation of the ClinicalExome with Omicia Opal and Phevor


*12:30 PM - 2:00 PM BioMed Central Editorial Board Meeting


12:45 PM - 1:45 PM Poster Walk I

NEW for 2014! Advance Registration Required


12:45 PM - 1:30 PM Exhibit Theater: Superior Sequencing Coverage and Uniformity in AffordableGene Panels That You Can Customize, Integrated DNA Technologies


1:45 PM - 2:30 PM Exhibit Theater: Why Accuracy Matters: Improving Discovery and Diagnostics forWhole Genomes and Exomes, Personalis


2:00 PM - 4:00 PM Poster Session II (Monday Poster Authors Present)


2:45 PM - 3:30 PM Exhibit Theater: Arrays and NGS - High Resolution Analysis of the Medical Exome,OGT


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4:30 PM - 6:30 PM Concurrent Platform Session C:

Convention Center

37. From Bytes To Phenotypes Hall B1, Ground Level

38. Rare Mutations, Well Done Room 6AB, Upper Level

39. Cardiovascular Genetics II: Genetic Discovery and Characterization Room 6CF, Upper Level

40. Genetics of Complex Neuropsychiatric Disorders Room 6DE, Upper Level

41. Statistical Methods for Population Based Studies Room 20A, Upper Level

42. Genome Variation and its Impact on Autism and Brain Development Room 20BC, Upper Level

43. ELSI Issues in Genetics Room 20D, Upper Level

44. Prenatal, Perinatal, and Reproductive Genetics Room 28, Upper Level

45. Advances in Defining the Molecular Mechanisms of Mendelian Disorders Room 29, Upper Level

46. Epigenomics of Normal Populations and Disease States Room 30, Upper Level

6:30 PM - 8:00 PM ASHG Trainee Networking Session Network with professionals in a wide range of genetics-related careers. Separateadvance ticket purchase required.

Convention CenterBallroom 20D/Terrace, UpperLevel

*6:30 PM - 10:30 PM ICHG 2016 Scientific Program Committee Meeting

Marriott Marquis & MarinaCardiff/Carlsbad, Level 3

*6:30 PM - 7:30 PM ACMG Social, Ethical and Legal Issues (SELI) Committee Meeting


6:30 PM - 9:30 PM Global Alliance for Genomics and Health Information Session


6:30 PM - 8:00 PM CCMG & CIHR Institute of Genetics Mixer with SickKids Centre for GeneticMedicine

Marriott Marquis & MarinaMarina E, South Tower, Level 3

6:30 PM - 8:00 PM Cleveland Clinic Genomic Medicine Institute Reception


6:30 PM - 8:30 PM Baylor College of Medicine Department of Molecular and Human GeneticsReception

Marriott Marquis & MarinaMarina D, South Tower, Level3

6:30 PM - 8:30 PM The Ohio State University Comprehensive Cancer Center (OSUCCC) James Scarletand Gray Reception

Marriott Marquis & MarinaSanta Rosa, South Tower,Level 1

6:30 PM - 10:00 PM Regeneron Genetic Center Reception


*6:30 PM - 8:30 PM ASHG Future of the Annual Meeting (FoAM) Ad-Hoc Meeting


6:30 PM - 8:00 PM Fluidigm Exhibitor Education Event: From bulk samples to a single-cell, a visionto standardize sequencing for translational genetics

Hard Rock Hotel

6:45 PM - 8:00 PM PALB2 Interest Group Meeting (for information contact: Marc [email protected])


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*6:45 PM - 7:45 PM GIANT Consortium Convention CenterRoom 7B, Upper Level

*7:00 PM - 10:00 PM ACMG Lab QA Full Committee Meeting


*7:00 PM - 9:00 PM Mount Sinai Alumni Reception

Marriott Marquis & MarinaLa Costa, South Tower, Level 4

7:00 PM - 9:30 PM Johns Hopkins Institute of Genetic Medicine Reception


*7:00 PM - 10:00 PM RUCDR Infinite Biologics and BioProcessing Solutions Networking Reception

Marriott Marquis & MarinaSolana, South Tower, Level 1

7:00 PM - 9:00 PM Iowa Institute of Human Genetics University of Iowa Alumni Reception

Marriott Marquis & MarinaRoy's Hawaiian FusionRestaurant

7:30 PM - 9:30 PM University of Maryland School of Medicine/Program in Personalized & GenomicMedicine/Institute for Genome Sciences Reception

Marriott Marquis & MarinaBalboa, South Tower, Level 3

7:30 PM - 10:30 PM 2014 Annual University of Chicago Department of Human Genetics DessertReception

Marriott Marquis & MarinaMission Hill, South Tower,Level 3

8:00 PM - 10:00 PM University of Michigan Department of Human Genetics Alumni Gathering


8:00 PM - 11:30 PM UCSF Reception

Marriott Marquis & MarinaDelMar, South Tower, Level 3

8:00 PM - 10:00 PM Department of Genetics and Genome Sciences, Department of Epidemiology andBiostatistics, and Institute for Computational Biology at Case Western ReserveUniversity Reception

Marriott Marquis & MarinaRancho Santa Fe, North Tower,Level 1

9:00 PM - 11:00 PM CHOP/PENN REUNION

Marriott Marquis & MarinaNewport Beach, South Tower,Level 4

Tuesday, October 21(*) Asterisk denotes meetings that are by invitation or pre-registration only. Otherwise, attendance may be assumed to be open to all registrants.

*6:00 AM - 8:00 AM ACMG Maintenance of Certification Committee Meeting


*7:00 AM - 8:00 AM ACMG GGRC Planning Committee


*7:00 AM - 8:00 AM ASHG Training and Development Committee Meeting










8:00 AM - 8:25 AM 47.

Plenary Abstracts Featured Presentation III


8:30 AM - 10:00 AM 48.

ASHG/ESHG Building Bridges Session:Towards Finding Global Agreementon Topical Discussions in Genetics: Evolving Uncertainties in GenomicMedicine








10:00 AM - 5:00 PM How Do You Think Genetic Research Will Affect the Future? The Genetic PortraitProject An Interactive Art Initiative Exhibit




10:30 AM - 12:30 PM Concurrent Platform Session D:

Convention Center

49. Detailing the Parts List Using Genomic Studies Hall B1, Ground Level

50. Statistical Methods for Multigene, Gene Interaction and Pathway Analyses Room 6AB, Upper Level

51. Neurogenetics: From Gene to Mechanism (II) Room 6CF, Upper Level

52. Contribution of Common and Rare Variation to Obesity-Related Traits Room 6DE, Upper Level

53. The Dynamic Genome: Structural and Somatic Variation Room 20A, Upper Level

54. Expanding Clinical Phenotypes Room 20BC, Upper Level

55. Cancer Susceptibility Genes: Identification and Implementation Room 20D, Upper Level

56. Balanced and Unbalanced Chromosomal Rearrangements Room 28, Upper Level

57. Diagnostic Yield of New Genomic Technologies Room 29, Upper Level

58. Genetic/Genomic Education and Services Delivery Room 30, Upper Level

10:30 AM - 11:25 AM Genetics in Motion Movie: On Beauty with Rick Guidiotti


*12:30 PM - 2:00 PM ASHG Advocates Luncheon: Genetic Testing in Children and Adolescents




12:30 PM - 2:00 PM Lunch Break, Open Viewing for Posters and Exhibits


*12:30 PM - 2:00 PM ASHG Program Committee Meeting #2


12:30 PM - 2:00 PM ASHG Trainee Professional Development Program (Tuesday Session) Space is limited. Admission on a first-come, first-served basis.


12:30 PM - 2:00 PM Behind the Scenes: ASHG Publications Workshop Separate advance ticket purchase required.


12:30 PM - 2:00 PM ASHG Interactive Workshop: Best Practices for Variant Discovery with the

GATK Separate advance ticket purchase required.


12:30 PM - 2:00 PM ASHG Interactive Workshop: Clinical Genomics at NCBI

Separate advance ticket purchase required.


*12:30 PM - 2:00 PM ACMG Secondary Finding Maintenance Working Group


12:30 PM - 2:00 PM Association of Professors of Human and Medical Genetics (APHMG) and SIGsBusiness Meeting and Lunch


*12:30 PM - 2:00 PM MGM Reports Editorial Board Meeting - Elsevier


12:30 PM - 1:45 PM QIAGEN Exhibitor Education Event: Your Best Data: Teaming QIAGEN Chemistry &Infomatics to Drive Samples to Insight


12:30 PM - 2:00 PM Complete Genomics (A BGI Company) Exhibitor Education Event: ClinicalApplications of Whole Genome Sequencing


12:30 PM - 2:00 PM Human Variome Project Sequence Variant Description Workshop


12:30 PM - 2:00 PM Life Technologies a Thermo Fisher Scientific Brand Exhibitor Education Event:NGS Breakthroughs in Genetics Research with Ion Torrent Sequencing: FromResearch to the Clinic


12:30 PM - 2:00 PM Pacific Biosciences Exhibitor Education Event:: A New Look at the HumanGenome - Novel Insights with Long-read PacBio Sequencing


12:30 PM - 2:00 PM TECHNIDATA Exhibitor Education Event: The Role of Biobanks in the ModernLaboratory


12:30 PM - 2:00 PM ASHG/FASEB MARC Awardees Luncheon


12:45 PM - 1:45 PM Convention Center

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Poster Walk II

NEW for 2014! Advance Registration Required

Exhibit Hall E, Ground Level

12:45 PM - 1:30 PM Exhibit Theater: Revolutionizing Carrier Screening: Leveraging NGS & PowerfulData Analytics to Build a Single Test for Hundreds of Diseases, WithoutPopulation Exclusivity, Gene by Gene


1:00 PM - 2:00 PM RainDance Technology Exhibitor Education Event: Detecting Circulating NucleicAcids by Fluid Biopsy and Profiling Somatic Tumors with Next-Gen DNA


1:45 PM - 2:30 PM Exhibit Theater: An integrated molecular medicine platform for interpreting andreporting on patient genomic profiles, Thomson Reuters


2:00 PM - 4:00 PM Poster Session III (Tuesday Poster Authors Present)


4:30 PM - 6:30 PM Concurrent Platform Session E:

Convention Center

59. We Have the Technology: Next-Generation Genomic Methods Hall B1, Ground Level

60. Hereditary Breast-Ovarian Cancer Room 6AB, Upper Level

61. Genomic Studies of Schizophrenia and Bipolar Disorder Room 6CF, Upper Level

62. From Association to Function in Complex Traits Room 6DE, Upper Level

63. Therapy for Genetic Disorders Room 20A, Upper Level

64. Exome Sequencing as Standard of Care in Clinical Genetics Room 20BC, Upper Level

65. Beyond the Sequence: Genomic Regulation and Disease Room 20D, Upper Level

66. A Clear Vision for Genetic Eye Diseases Room 28, Upper Level

67. Autoimmune Genes: Discovery & Function Room 29, Upper Level

68. Pharmacogenetics: From Association to Action Room 30, Upper Level

*6:30 PM - 8:00 PM ASHG Awards Committee Meeting


*6:30 PM - 8:30 PM MatchmakerExchange API Working Group Meeting


Wednesday, October 22(*) Asterisk denotes meetings that are by invitation or pre-registration only. Otherwise, attendance may be assumed to be open to all registrants.

7:00 AM - 10:00 AM Speaker Presentation/Upload Room Open Speakers are required to upload their presentations here. We recommenduploading at least 3 hours before your presentation time.


7:30 AM - 10:00 AM Scientific Registration Open


9:00 AM - 11:00 AM Concurrent Invited Session II:

Convention Center

69. Circulating Cell-Free Nucleic Acids as Clinical Biomarkers Room 6AB, Upper Level

70. Genomic Medicine Case Conference: Illustrative Clinical Examples Room 20D, Upper Level

71. Genomic Variation: Interpreting the Uninterpreted Room 20A, Upper Level

72. Genetics of Sleep and Circadian Disorders Room 30, Upper Level

ayoungHighlight

ayoungHighlight

ayoungHighlight

ayoungHighlight



73.

Heritability and Risk Prediction for Complex Traits: Regulatory Variants andPolygenic Models


74.

Stakeholder Engagement in Genomics Policy Development: What Is It? WhyDo It? How?

Room 29, Upper Level

75.

Variation, Mutation, and Selection through the Lens of RegulatoryGenomics

Room 6CF, Upper Level

76. Viruses, Genomic Instability, and the Pathogenesis of Human Cancers Room 6DE, Upper Level

11:15 AM - 12:30 PM 77.

ASHG Membership/Business Meeting and Announcement of the C.W.Cotterman Award Winners and the Charles J. Epstein Trainee Awards forExcellence in Human Genetics Research Winners

Convention CenterRoom 20BC, Upper Level

12:30 PM - 5:00 PM ACMG ClinGen Workshop- Closed Meeting


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ASHG 2014 Schedule

Documents

clinicalrelated events

educationrelated events

exhibitor education

traineerelated events

track highlights sessions

schedule of events ancillary

social issuesrelated

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