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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, 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.

 

 

Recent CIDR-Related Publications

 

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

Current Protocols in Human Genetics, 2017 January

 

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

 

A large genome -wide association study of age-related macular degeneration highlights contributions of rare and common variants

Fritsche, Lars G. et al, Nature Genetics, 2015 December 21

 

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges and Opportunities

Chong, Jessica X. et al, Am J Hum Genet, 2015 July 9

 

Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer

Childs, Erics J et al, Nature Genetics, 2015 June

 

Biology-Driven Gene-Gene Interaction Analysis of Age-Related Cataract in the eMERGE Network

Hall, Molly et al, Genetic Epidemiology, 2015 May 17

 

Lessons Learned from Whole Exome Sequencing in Multiplex Families Affected by a Complex Genetic Disorder, Intracranial Aneurysm

Farlow, Janice L et al, PLOS One, 2015 March 24

 

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

Gripp, KW et al, AM J Med Genet A., 2015 February

 

Assessment of incidental findings in 232 whole-exome sequences from the Baylor–Hopkins Center for Mendelian Genomics

Jurgens, Julie et al, Genetics in Medicine, 2015 January 8


Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

Wang, Yufei T. et al, Nature Genetics, 2014 June 1


 

Recent dbGaP Postings

 

January 2017
Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) - OncoArray Genotypes

 

October 2016
The African American Breast Cancer Epidemiology and Risk (AMBER) Consortium Study

 

OncoArray: Oral and Pharynx Cancer

 

September 2016
Study on the Genetics of Alcoholism (COGA): African American Families GWAS

 

July 2016
Efficacy of Bitter Taste Blockers on Flavor Acceptance in a Human Population

 

The Finland-United States Investigation of NIDDM Genetics (FUSION) Tissue Biopsy Study - Muscle Expression by RNAseq

 

 

 

All CIDR Studies in dbGaP

 

 


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photo of Statistical genestics staff

 

Statistical Genetics Staff Elizabeth Pugh, Hua Ling and Peng Zhang