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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

 

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

 

 

 

 


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photo of lab qc staff

 

QC Analysts Sarah Allen and Kristin Johnson