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CIDR NEWS

July 2012

Volume 2, Issue 2

To subscribe to CIDR News, click here, or send a blank email to sympa@lists.johnshopkins.edu; subject line: subscribe CIDR_News.

 

CIDR Named as a Center for Mendelian Genomics

CIDR was named as one of the Centers for Mendelian Genomics, a new initiative established by NIH to accelerate the discovery of genes underlying Mendelian disorders. As part of the Baylor-Hopkins Center for Mendelian Genomics (BHCMG), we are actively generating whole exome sequencing datasets and supporting downstream analyses. A recent AJMG commentary describes the Centers.

To submit families to the BHCMG visit www.mendeliangenomics.org.

Have a Great Summer!

Employment Opportunities

- Research Technologist

- Administrative Coordinator

Learn more...

Next deadline for applications for the NIH CIDR Program

Publications Highlights

Observations made at CIDR while assessing data quality from early GWAS studies have led to recent reports that somatic mosaicism is more common than once thought and, if detected in blood cells of a patient, can be an indication of an increased risk of developing hematological cancer. Read more...

Finding genes that contribute to disease

New Technologies & Services

CIDR currently uses the Illumina MiSeq to QC sequencing libraries ensuring well balanced sample pools and appropriate cluster density before initiating an extended HiSeq run. Once Illumina releases the MiSeq upgrade, the instrument will generate 2x250 base pair runs with an approximate total sequence output of 7 Gb completed in a fraction of the time of using a HiSeq. Read more...

Recent dbGaP Postings

Five CIDR studies have recently been posted to dbGaP including two HumanOmni2.5 datasets. Read more...