Skip navigation

You are here: CIDR>NIH Projects and Statistics> 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


The Center for Inherited Disease Research at Twenty

The Genomics Landscape, 2016 May


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


Visit our Highlights page for other recent publications.


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



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





Contact Us  |  Privacy Policy  |  Site Map  |  Get Adobe Reader


Subscribe to CIDR News



photo of lab qc staff


QC Analysts Sarah Allen and Kristin Johnson