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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

 

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

Wu, Lang et al, Nature Genetics, 2018 June

 

Genome-wide mapping of global-to-local genetic effects on human facial shape

Claes, Peter et al, Nature Genetics, 2018 February

 

GAME-ON & OncoArray: An International Collaboration to Discover Cancer Genetic Risk Factors

 

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Milne, Roger L et al, Nature Letters, 2017 October

 

Association analysis identifies 65 new breast cancer risk loci

Michailidou, Kyriaki et al, Nature, 2017 October

 

Breast cancer genetics revealed: 72 new mutations discovered in global study

Susan Scutti, CNN, 2017 October

 

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

 

 

Recent dbGaP Postings

 

September 2018
Uncovering the Genetic Architecture of Colorectal Cancer with Focus of Rare and Less Frequent Variants

 

June 2018
CIDR Whole Exome Sequencing in Joubert Syndrome

 

May 2018
GECCO: Detecting Common and Rare Genetic Loci and GxE Interactions in Colorectal Cancer

 

March 2018
Genetics of Disorders Affecting Tooth Structure, Number, Morphology and Eruption

 

OncoArray: Prostate Cancer

 

February 2018
National Eye Institute (NEI) Exfoliation Genotyping Study

 

 


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photo of Statistical genestics staff

 

Statistical Genetics Staff Elizabeth Pugh, Hua Ling and Peng Zhang