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The impact of the studies funded by the NIH CIDR Program is evidenced by nearly 1,200 peer-reviewed papers published in over 160 journals including:


• American Journal of Human Genetics
• Nature Genetics
• Diabetes
• Molecular Psychiatry
• Science

• Cancer Research


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




There is no requirement to include CIDR or any individual CIDR staff members in publications resulting from projects. We do require CIDR be noted as the source of the genotyping or sequencing results by including an acknowledgement specified in project-related documents.


Recent Publications


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


Quality Control for the Illumina HumanExome BeadChip

Current Protocols in Human Genetics, 2016 July


Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21

Human Genetics, 2016 August


The OncoArray Consortium: a Network for Understanding the Genetic Architecture of Common Cancers

Cancer Epidemiology Biomarkers & Prevention, 2017 January


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

Current Protocols in Human Genetics, 2017 January


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

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



Visit our Highlights page for other recent publications.


CIDR ASHG Posters - 2017


Custom Targeted Design Workflow for Next Generation Sequencing


Development of a Framework for Laboratory Information Tracking in Support of Research and Clinical Operations


NGS Pretesting and QC Using Illumina Infinium Arrays


CIDR IGES Posters - 2017


A Comparison of Methods for Identification of Genetic Variants Related to Age-of-Onset of Cystic Fibrosis Related Diabetes


Exome CNV Overlapping (ECO): an Integrative Copy Number Variation Caller for Exome Sequencing



CIDR AGBT Posters - 2017


Custom Targeted Design Workflow for Next Generation Sequencing


Combining Synthetic Long Read Sequencing and Optical Mapping for Greatly Improved de novo Genome Assembly


Integrating Copy Number Variants (CNV) Calls from Exome Sequencing Data



CIDR ASHG Posters - 2015


Integration of Bina RAVE for genomic data analysis at the Center for Inherited Disease Research


Calcordance: A Genotyping Concordance Tool


Massively Parallel Demultiplexing of Raw Illumina Sequencing Data


Evaluation of DNA sample fragmentation methods for input into library construction protocol


Development of a Low Input FFPE workflow for Whole Exome Sequencing


Sequencing File Mover: A Tool for the Management of Sequencing Data


Utilizing the Genome Analysis Toolkit's (GATK) CalculateGenotypePosteriors to refine sequencing genotype calls based on external population and trio information


Rapid Generation of Illumina Infinium Genotyping Release Data


Improvements To Existing QC Tools For Methylation 450K Arrays


Calling mitochondrial DNA (mtDNA) variants from whole exome sequencing (WES) data


Phoenix Web: Presenting Relevant Lab Data and Receiving Feedback From Outside Sources


CANNOTATE: A Genomic Sequencing And Annotation Database


CIDR IGES Posters - 2015


Evaluation of Copy Number Variation (CNV) detection methods in whole exome sequencing (WES) data


CIDR AGBT Posters - 2015


Comparison of Library Prep Kits for Low Input Whole Exome Sequencing


Evaluation of Nanopore Sequencing for Measuring Repeat Expansions in Genetic Disease



CIDR ASHG Posters - 2014


Accurate Error Rates: Calculating Reproducibility by Minor Allele Frequency


Implementing an NGS Bioinformatics Pipeline: Making the Transition from Research to Clinical


CIDR IGES Poster - 2014


Copy Number Variation (CNV) detection in Whole Exome Sequencing Data for Mendelian Disorders


Evaluation of Variant Calling from Thousands of Low Pass WGS Data using GATK Haplotype Caller


CIDR GAW Poster - 2014


Our QC and Annotation Adventures





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photo of lab qc staff


QC Analysts Sarah Allen and Kristin Johnson