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Publications

 

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

 

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