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YSM Seminar Speaker Dr. Peter Robinson, September 19, 2017

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Peter Robinson from the Jackson Laboratory for Genomic Medicine is the speaker at our departmental seminar series on September 19, 2017 at 11:30am‐12:30pm in TAC Auditorium (N107). Please see below his abstract and CV.

As you may know, Peter’s group developed the Human Phenotype Ontology (HPO), which is now an international standard for computation over human disease that is used by the Sanger Institute, several NIH-funded groups including the Undiagnosed Diseases Program, Genome Canada, the rare diseases section of the UK’s 100,000 Genomes Project, and many others. The group develops algorithms and software for the analysis of exome and genome sequences and has used whole-exome sequencing and other methods to identify a number of novel disease genes, including CA8, PIGV, PIGO, PGAP3, IL-21R, PIGT, and PGAP2.

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Human Phenotype Ontology-Driven Prioritisation of Coding and Noncoding Variants in Exome and Genome Sequencing

Peter N Robinson

In this talk, I will introduce the Human Phenotype Ontology (HPO), and present a method we developed to exploit phenotype data to identify promising candidate genes in whole exome/genome sequencing (WES/WGS) studies. Our methods filter and evaluate WES/WGS variants according to rarity, mode of inheritance, and predicted pathogenicity, and ranks the associated candidate genes according to phenotypic similarity. The latter is calculated with respect to querying human, mouse, and zebrafish mutant phenotypes using cross species phenotype mapping. Our software is being used in the National Institutes of Health
Undiagnosed Diseases Program (UDP), the 100,000 Genomes Project to evaluate WES/WGS data; I will present recent results. I will conclude the talk by presenting the Genomiser, a method we have developed for regulatory Mendelian mutations found in UTRs, promoter, enhancers, and RNA genes. Simulations using 1000 Genomes VCF files show an ability to rank the seeded causative variant in first place over an entire genome in over 60% of cases.

gerstein PI quota report

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gerstein PI quota report
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Yale 2017 Data Science Workshop: “Computational Social Science”

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Dear Colleagues,

**** Please share this announcement with your faculty now. Space is limited. After September 5, registration will be
open to everyone. Reserve your space now. ****

The Department of Statistics and Data Science, the Department of Computer Science, and the Division of Social Sciences
in FAS are organizing the first Data Science workshop at Yale.

The topic of this inaugural event will be “Computational Social Science”.

Date: Friday, October 20, 2017
Time: 9-5
Location: Luce Hall, 34 Hillhouse

To attend and/or present, use this form:

https://docs.google.com/forms/d/e/1FAIpQLSdXxc3x7TMrKzJq_2Ufc5mMpyiLBjd8JHLJayRFtHSdE2twSA/viewform

Space is limited!

Invited speakers:

Jenn Wortman Vaughn, Microsoft Research, New York (http://www.jennwv.com/) Jesse Shapiro, Brown University (http://www.brown.edu/Research/Shapiro/) Brendan O’Connor, UMass Amherst (http://brenocon.com/)

The full schedule will be posted by September 15.

On behalf of the organizing committee

HPC Resources

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a summary of current resources on Yale’s HPC clusters (not incl. 100 Tb loan)

Compute

Grace
GROUP NODES CORES
gerstein1tb 1 32
gerstein 32 640
Farnam
GROUP NODES CORES
gerstein 34 384
gerstein_gpu 3 60

Storage

Grace
GROUP TB
gerstein 400
Farnam
GROUP TB
gerstein 366

Frank Slack from Harvard will be the MCDB guest speaker 9/13/17 in SCL 160

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https://messages.yale.edu/messages/attachments/w3_156797_Frank_Slack_s_flyer.pdf

We invite you to join us on Wednesday September 13, 2017 for the 1st MCDB Seminar.

Frank Slack from BIDMC, Harvard University will be the guest speaker.

Title: “MicroRNA-based therapeutics in cancer”

Date: Wednesday September 13, 2017

Time: 3:45 pm tea 4:00-5:00 pm seminar

Place: SCL 160

Sterling Chemistry Lab

225 Prospect Street

Hosted by: Joe Wolenski