ASHG 2014

 

A comprehensive comparison of commercially available hybridization and amplification based exome enrichment methods

A genome-wide association study identified variants in KCNIP4 associated with ACE inhibitor induced cough

A Genome-wide Association Study of Apnea-Hypopnea Index in Children with Obstructive Breathing

A genomic decision aid linked to the electronic health record to disclose coronary heart disease risk and enable shared decision-making.

Analyst Portal – a real-time, distributed web query tool that streamlines data search at a genomics center

Application of Clinical Text Data for Phenome-Wide Association Studies (PheWASs)

Association of rare variants in LDLR, HMGCR, NAT2, ABCA1, and APOA1 with plasma lipid levels; initial results from the eMERGE PGx project.

Association of Rare Variants with Cerebral Palsy by Whole Exome Sequencing

Combined methods to explore genetic etiology of related complex diseases

Common and rare genetic risk factors converge in protein interaction networks underlying schizophrenia

Common variants at c11orf30 and CAPN14 are associated with eosinophilic esophagitis

Comparative Analysis of Electronic Health Record (EHR)-driven and Conventional Cohort–driven Genomic Research

Comparison of parents’ initial intent and reported sharing of their children’s CYP2D6 research results at three month follow up

Copy Number Variations detection for Congenital Absence of bilateral ACL and PCL ligaments

eMERGE Phenome-Wide Association Study (PheWAS) Identifies Clinical Associations and Pleiotropy for Functional Variants

Evidence for association of CDH26 with Autism Spectrum Disorders

EWAS to GxE: A robust strategy for detecting gene-environment interaction models for age-related cataract

Exome sequencing identifies a novel missense mutation in MFN2 in familial dysautonomia

Gene-based burden analysis of imputed low frequency variants identifies associations with LDL in an African American cohort

Identification of nonresponders through the use of EMRs identifies MSRA as a potential controller of response of asthmatics to inhaled corticosteroids

Identification of putatively causative variants in three anorexia nervosa multiplex families by whole exome sequencing

Increased Frequency of De novo Copy Number Variations in Congenital Heart Disease by Integrative Analysis of SNP Array and Exome Sequence Data

Individual’s Perspectives on Broad Consent and Data Sharing: A Systematic Review of U.S. Biobanks.

Investigation of a missense in NOTCH4 in autosomal dominant scleroderma

Machine Learning Derived Disease Risk Prediction for Anorexia Nervosa

Novel intergenic large non-coding RNAs (lincRNA) in Human Retina and RPE/Choroid

Numeracy, Genetic Knowledge, and Perceived Risk for Coronary Heart Disease in the MI-GENES Study

Optimization of a High-Throughput, Cost-effective, Reliable Method for Large-Scale Screening of CNVs at Candidate Loci using qPCR

Pathway Based Genome-Wide Association Studies Reveal the Association between Growth Factor Activity and Inflammatory Bowel Disease

Patient and physician responses to pharmacogenomic testing

Patient Persepctives on the Use of Electronic Health Records for Research: The MI-GENES Study

Post-Mortem Whole Genome Sequencing: A Genomic Autopsy

Prospective participant selection and ranking to maximize actionable PGx variants and discovery in the eMERGE Network

Rare potentially pathogenic variants in the congenital arrhythmia syndrome disease genes SCN5A and KCNH2 are detected frequently but rarely associated with arrhythmia phenotypes in electronic health records

The effect of Disclosing Coronary Heart Disease Genetic Risk on Shared-Decision Making

The genetic landscape of pediatric autoimmune diseases

The Type 1 Diabetes Susceptibility Gene CLEC16A encodes protein which restrains NK Cells function

Use of diverse electronic medical record systems for a genome-wide association study of colonic diverticular disease in European-ancestry populations

Using RNA-Seq to improve sensitivity/specificity of CNV calls made from whole-exome sequencing data

Whole exome sequencing allows the identification of a novel large deletion in PRPF31 in a family with autosomal dominant retinitis pigmentosa