Broad Institute Genomic Services at ASHG 2016

This year's annual meeting was one for the books! We've collected our workshop presentations, posters, and a few photos from our Meet the Experts in-booth events for you.

Scroll down to see more on our events at ASHG.


Introducing Variant Discovery with GATK 4

The Variant Discovery workshop at ASHG was a huge success, selling out an entire ballroom at the Vancouver Convention Centre weeks before the conference itself! This workshop introduced core "GATK Best Practices," a complete solution for variant discovery that goes from data preparation to variant calling, genotyping, filtering and evaluation. It focused on interactive exercises using the latest methodological innovations in the upcoming GATK version 4, enabling researchers to obtain best in class results from their data with cost-effective performance.

The workshop was a hands-on session where attendees were able to follow along, running exercises on their own laptops, and ecouraged to participate through mini-quizzes, provided by our GATK Guru, Geraldine Van der Auwera. Geraldine also took part in our Meet the Expert in-booth event at AHSG twice, due to the popularity of the workshop.

You can view the presentation and worksheets materials below.

GATK4 Workshop Presentation

Call somatic copy number variants using GATK CNV Worksheet

Introducing the Broad Institute Workbench: a Cloud-based Platform for Data Analysis, Storage, and Management

The Broad Institute & Broad Institute Genomic Services introduced the Workbench at this year's ASHG conference. Selling out the day before and with standing room only during the workshop itself, it showcased Workbench - Past, Present, and Future.

Attendees listened to user stories from the Broad Institute's Cancer and Medical Population Platforms, focusing on Workbench's capabilities, (large computational power, limitless storage, and efficient analysis), to advance research. The workshop also showcased Workbench as the data storage and analysis platform for the Precision Medicine Initiative utilizing not only genomic data, but data types, such as phenotypic/medical records and an overview on the functionality of the software itself.

You can view the workshop presentation below.

Introducing the Broad Institute Workbench Presentation


RNASeq 2.0 @ Broad Genomics: Advances in RNA sequencing analysis

C. Cibulskis; M. Shand; K. Bergin; A. McBeth; G. Vincente; Y. Farjoun; K. Tibbetts; N. Lennon


Scaling variant calling to hundreds of thousands of samples with GATK

L.D. Gauthier; D. Benjamin; K. Bergin; J.M. Billom; Y. Farjoun; M. Fleharty; S. Lee; M. Lek; H. Li; V. Ruano-Rubio; T; Sato; M. Shand; E. Banks; D. MacArthur


Detection and depletion of bacteria contamination in saliva derived DNA samples for human whole genome sequencing

M. Costello; N. Lennon; S. Gabriel; Broad Institute Data Sciences and Data Engineering Group


A sequencing deliverable: Theoretical sensitivity to heterozygous SNPs

K. Bergin; D. Benjamin; J. Bloom; M. Costello; J. Rose; C. Tolonen; Y. Farjoun

Meet the Experts

The Broad Institute Genomic Services booth had five Meet the Expert events over the course of the ASHG conference where attendees could meet with experts from the Broad Institute. Attendees could speak and ask questions on a variety of topics.

Our experts included Jeff Gentry, Heidi Rehm, Geraldine Van der Auwera, Daniel MacArthur, and Alexander Baumann and areas of expertise included Cloud-based Analysis Execution, Medical & Population Studies, Clinical Research, ExAc, GATK, and the Broad Institute's Workbench.