Upcoming Events
6TH 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 to register for the Friday session
Rare 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
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.
Non-Coding RNA Symposium
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)
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.
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.
Genetics and Genomics in Clinical Research
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
Time: 10:00 am - 6:30 pm
Recent Events
Time: 8:00 am - 3:30 pm
| 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 |
Friday, February 28, 2014
Children's Harbor
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)
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.