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Highlights

 

 

CIDR joins with clinical genomic expertise to form Johns Hopkins Genomics

 

Johns Hopkins Genomics is a joint effort of the McKusick-Nathans Institute of Genetic Medicine and the Department of Pathology at Johns Hopkins. Johns Hopkins Genomics combines research units including the Center for Inherited Disease Research (CIDR) and the Genetic Resources Core Facility (GRCF) with clinical operations including the DNA Diagnostic Laboratory and the Molecular Pathology Laboratory. Johns Hopkins Genomics is staffed with clinical molecular geneticists, bioinformaticists, statistical geneticists, clinical geneticists and molecular pathologists in a new building in the East Baltimore BioPark adjacent to the medical school campus.

 

 

Please visit our new interactive publications website to explore the breadth of CIDR Program funded studies.

 

 

Recent CIDR-Related Publications

 

Imputation-Based Genomic Coverage Assessments of Current Genotyping Arrays:Illumina HumanCore, OmniExpress, Multi-Ethnic global array adn sub-arrays, Global Screening Array, Omni2.5M, Omni5, and Affymetrix UK Biobank

Nelson, Sarah C et al, bioRxiv, 2017 June

 

Identification of 12 New Susceptibility Loci for Different Haplotypes of Epithelial Ovarian Cancer

Phelan, Catherine M et al, Nature Genetics, 2017 May

 

Generating Exome Enriched Sequencing Libraries from formalin-Fixed, Paraffin-Embedded Tissue DNA for Next-Generation Sequencing

Current Protocols in Human Genetics, 2017 January

 

Genome-Wide Association Analyses Identify New Susceptibility Loci for Oral Cavity and Pharyngeal Cancer

Lesseur, Corina et al, Nature Genetics, 2016 September

 

The Genetic Regulatory Signature of Type 2 Diabetes in Human Skeletal Muscle

Scott, Laura J. et al, Nature Communications, 2016 June

 

The Center for Inherited Disease Research at Twenty

The Genomics Landscape, 2016 May

 

Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia

Li, Ruijuan et al, Haematologica, 2016 March

 

 

Recent dbGaP Postings

 

September 2017
NINDS Family-Based Whole-Genome Sequencing to Find Modifiers of Age of Onset in Huntington's Disease

 

June 2017
Wisconsin Longitudinal Study on Aging

 

May 2017
Population Architecture using Genomics and Epidemiology (PAGE)

 

April 2017
Oncoarray Consortium - Lung Cancer Studies

 

Transdisciplinary Research Into Cancer of the Lung (TRICL) - Exome Plus Targeted Sequencing

 

Transdisciplinary Research Into Cancer of the Lung (TRICL) - Exome Plus Targeted Sequencing

 

 

All CIDR Studies in dbGaP

 

 


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photo of Statistical genestics staff

 

Statistical Genetics Staff Elizabeth Pugh, Hua Ling and Peng Zhang