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2019 Rare Disease Symp STD Friday BOLD FINAL6TH ANNUAL RARE DISEASE GENOMIC SYMPOSIUM

March 1, 2019 | Bradley Lecture Center 

Registration is now open for the 6th Annual Rare Disease Genomic Symposium. This symposium, held in conjunction each year with Rare Disease Day, will focus on population genomics. The Friday session is $35 and the Saturday session is free. Registration information below. 

Click here for the agenda

Click here to register for the Friday session

2019 Rare Disease SATURDAY STD FINALRare Disease Patient and Family Workshop

March 2, 2019 | Bradley Lecture Center 

There will be a patient and family work shop on Saturday, March 2, 2019. It will be centered around patients and caregivers with this year's theme being "Demystifying the Rare Disease Journey: From Diagnosis to Treatment." For more information visit alabamarare.org.

Click here to register for the Saturday session

 
 
 
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RARE DISEASE GENOMIC SYMPOSIUM | MARCH 2-3, 2018

March 2 - 3, 2018 | Bradley Lecture Center 

Registration is now open for the 5th Annual Rare Disease Genomic Symposium. This symposium, held in conjunction each year with Rare Disease Day, will focus on the management of rare diseases. Friday, March 2, 2018 will have a scientific focus, while Saturday, March 3, 2018 will be centered around patients and caregivers.

Agenda

More information/Register


Non-Coding RNA Symposium

Call for Abstracts

Friday November 3, 2017

8:00 AM - 3:30 PM

Finley Conference Center

We invite our junior faculty, resident trainees, postdoctoral fellows, and graduate students, undergraduate students to submit an abstract of their original ncRNA research for presentation as
a poster at this year’s symposium. Prizes will be awarded for the top posters.
Abstract Submission Opens: 8:00 am – Monday, September 11, 2017
Abstract Submission Deadline: 5:00 pm – Friday, October 13, 2017 (no exceptions)

More information.

Agenda


Genetics and Genomics in Clinical Research - An advanced level Immersion Course for Investigators at UAB 

September 18-22, 2017

8:30 - 12:30 p.m.

Cost:
$50- Faculty
$25-Post Doc and Fellows
$10 –Students/Staff 

Continental Breakfast served daily

Location
Finley Conference Center 
720 20th St. S, Birmingham, AL 35233

Register here!

This course will review the principles, major technologies, and experimental approaches in genetics and genomics through both lectures and hands-on activities.

Learning Objectives:
1. Design an approach to identify a gene responsible for a phenotype in a family that segregates in a Mendelian manner.
2. Develop a study comparing patterns of gene expression or methylation levels in normal vs. pathological tissue.
3. Formulate a protocol involving human research subjects for a genetic or genomic study to be submitted for IRB review.
4. Choose between alternative genotyping or next generation sequencing platforms appropriate for specific applications.
5. Utilize major bioinformatics databases to analyze genomic data.

Click here for more information and the schedule!

For further information, please contact Shaila Handattu at hande@uab.edu 

 

Immersion Course

Computational Genomics - An advanced level Immersion Course for Investigators at UAB 

May 15-18, 2017
8:30 - 12:30 p.m.

Cost:

$50- Faculty
$25-Post Doc and Fellows
$10 –Students/Staff 

Continental Breakfast served daily

Location

Finley Conference Center 
720 20th St. S, Birmingham, AL 35233

Register here!

This course will provide the end user with a better knowledge of how to analyze their Genomics data using various Linux (command line) based analytical tools. Hands-on activities include analyzing whole genome for causal variants, transcriptome for gene expression, and epigenetics for calling peaks in ChIP/ATAC-Seq.

Learning Objectives:

1. Learn how to use Linux/Unix command line tools to analyze Next Generation Sequencing (NGS) data (whole genome/exome, transcriptome, epigenome).
2. Identify causal variants from whole genome/exome NGS data using Broad’s Genome Analysis Toolkit (GATK) Best Practices guidelines.
3. Identify significant genes being regulated in transcriptome studies.
4. Call and annotate peaks from ChIP-Seq and ATAC-Seq studies.

Click here for more information and the schedule!

For further information, please contact Shaila Handattu at hande@uab.edu



Center for Genomic Symposium 2017

The Center for Genomic Medicine Symposium is presented by UAB and the HudsonAlpha Institute for Biotechnology. 

Monday, May 8 | 10 a.m. - 6 p.m. | Huntsville, AL 

View Agenda | Register

  • Learn about the new granting program which will initiate development of systems and/or diseases oriented working groups, e.g. "Neuroscience", "Cardiovascular Diseases", "Autoimmunity", etc. with the aim to create research projects, which will integrate genetics/genomics and impact the discipline substantially. For details, click here.
  • Hear how you can leverage the Center's synergistic approach to genomics
  • Listen to talks from UAB and HudsonAlpha specialists in genomic medicine research
  • Tour the facilities on HudsonAlpha’s biotech campus and take advantage of networking opportunities.
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Genetics and Genomics in Clinical Research

An Immersion Course for Investigators at UAB 
October 10th-14th, 2016
8:30 a.m. -12:30 p.m.
Location: Finley Conference Center
720 20th Street South
Birmingham AL 35233
$50- Faculty
$25- Post-Doc
$10- Students
This course will review the principles, major technologies, and experimental approaches in genetics and genomics through both lectures and hands-on activities.
Course will be taught by Dept of Genetics and HudsonAlpha faculty
Click here to for registration information and learning objectives. 
 

Past Events


 


Computational Genomics 

An Advanced level Immersion Course for Investigators at UAB
May 16th-19th, 2016 from 8:30-12:30pm
$50- Faculty, $25-Post Doc and Fellows, $10 –Students/Staff
Continental Breakfast served daily

Location: Finley Conference Center
720 20th St. S, Birmingham, AL 35233

This course will provide the end user with a better knowledge of how to analyze their Genomics data using various Linux (command line) based analytical tools. Hands-on activities include analyzing whole genome for causal variants, transcriptome for gene expression, and epigenetics for calling peaks in ChIP/ATAC-Seq.

REGISTER HERE

Learning Objectives:

1. Learn how to use Linux/Unix command line tools to analyze Next Generation Sequencing (NGS) data (whole genome/exome, transcriptome, epigenome).
2. Identify causal variants from whole genome/exome NGS data using Broad’s Genome Analysis Toolkit (GATK) Best Practices guidelines.
3. Identify significant genes being regulated in transcriptome studies.
4. Call and annotate peaks from ChIP-Seq and ATAC-Seq studies.

Schedule:



Monday, May 16*

Tuesday, May 17

Wednesday, May 18

Thursday, May 19



8:30-9:00



Breakfast



Breakfast



Breakfast



Breakfast



9:00-10:00

Overview



Dr. Bruce Korf



9:00-9:15

Whole Genome Sequencing: Aligning Raw Reads



Dr. David Crossman



Whole Genome Sequencing: Identifying causal variants using various databases



Dr. David Crossman



Transcriptome: Pathway Analysis of Significant Genes



Dr. David Crossman



10:15-11:15

Introduction to UNIX/LINUX and Virtual Machine for Data Analysis



Dr. David Crossman



9:15-10:45

Whole Genome Sequencing: Preparing aligned reads with GATK



Dr. David Crossman

Transcriptome: Aligning Raw Reads



Dr. David Crossman

Epigenetics: Aligning Raw Reads for ChIP/ATAC-Seq



Dr. David Crossman



11:30-12:30

Accessing and Submitting Jobs on UAB’s Compute Cluster, Cheaha



Dr. David Crossman



11:00-12:30

Whole Genome Sequencing: Calling Variants with GATK



Dr. David Crossman

Transcriptome: Estimating transcript abundances and differential expression



Dr. David Crossman



Epigenetics: Calling/Annotating ChIP/ATAC-Seq peaks



Dr. David Crossman

* Please note the change in timings

UABisanEqualOpportunity/AffirmativeActionEmployercommittedtofosteringadiverse,equitableandfamily-­‐friendlyenvironmentinwhichallfacultyandstaffcanexcelandachievework/lifebalanceirrespectiveofethnicity,gender,faith,genderidentityandexpressionaswellassexualorientation.UABalsoencouragesapplicationsfromindividualswithdisabilitiesandveterans.

For further information please contact Shaila Handattu at hande@uab.edu


 

 

 

Rare Disease Symposium 2016 Flyer page 001 1

Rare Disease Symposium 2016 Flyer page 002

Rare Disease 2016 STD page 001

Immersion course Registration1
Immersion course Registration2

UAB-HudsonAlpha Center for Genomic Medicine Symposium
Date: Tuesday, May 12, 2015
Time: 10:00 am - 6:30 pm
CGM Symposium Agenda Page 1
CGM Symposium Agenda Page 2

Recent Events
Rare Disease Symposium 2015
Date: Monday, March 16, 2015
Time: 8:00 am - 3:30 pm

Flyer Rare Disease Symposium 2015 Page 1

Flyer Rare Disease Symposium 2015 Page 2

Immersion Course 2015
Dates: January 26 - January 30, 2015
  Monday, Jan 26

Tuesday, Jan 27

Wednesday, Jan 28

Thursday, Jan 29

Friday, Jan 30



7:15-7:45

Breakfast

Breakfast

Breakfast

Breakfast

Breakfast

7:45-8:45

Introduction

Dr. Bruce Korf

Genotyping Technologies and Copy Number Variation Analysis

Drs. Fady Mikhail

And

Mike Crowley

Analysis of exome/genome sequence data

Dr. Greg Cooper

Approaches to Bioinformatic Data Analysis

Dr. David Crossman

Genetic Linkage Analysis

Dr. Hemant Tiwari

9:00-10:00

Approaches to Gene Discovery

Dr. Bruce Korf

Next-Generation Sequencing

Dr. Mike Crowley

Clinical annotation of genomic data

Dr. Greg Barsh

Bioinformatic Pathway and Ontology Analysis

Dr. David Crossman

Human Population Genetics

Dr. Bruce Korf

10:15-11:15

Case Studies/

Translational Genomics

Dr. Bruce Korf

Lab Visit – Heflin Center Core Lab

Genetic counseling based on genomic sequencing

Ms. Kelly East

Use of Bioinformatic Databases

Dr. David Crossman

Genetics in Medicine


Dr. Bruce Korf


UAB World Rare Disease Day Symposium
Friday, February 28, 2014
Children's Harbor
human dna
Overview of Genome Sequencing - Bruce Korf, MD, PhD (UAB)

Genetic Counseling Issues - Meagan Cochran, MS, CGC (UAB)

Genetic Diagnosis by Genome Sequencing - Wayne Grody, MD, PhD (UCLA)

Genomics of Developmental Delay - Greg Barsh, MD, PhD (HudsonAlpha Institute)

The NIH ClinSeq Project - Les Biesecker, MD, PhD (NHGRI)

The UAB Undiagnosed Diseases Program - Maria Descartes, MD (UAB)
 

 
Gene Discovery Approaches Workshop flyer

If you would like to have access to the presentations (slides and videos), please email both Dr. David Crossman and Alex Zotov.  Must be a UAB employee to view these videos/slides.
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Heflin Center for Genomic Science


Schedule Online

 

 

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Integrated DNA Technologies Heflin Center Portal