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ASHG Highlights

Below are some highlighted abstracts from the Division of Genetics and Genomics, presented at the 2014 American Society of Human Genetics meeting (San Diego, CA, Oct. 18-22)

To view each abstract, visit the ASHG 2014 search page and type the program number into the “Program Number” search field.

Best genomic practices

219 Patient preferences for the return of individual research results derived from pediatric biobank samples (platform presentation)

2367T Participant preferences regarding the return of mental health related research results from a pediatric biobank (poster)

2412S An assessment of clinician and researcher needs for support in the era of genomic medicine (poster)

2533T Establishing criteria for reporting genomic sequencing results in healthy versus ill newborns: The BabySeq Project (poster) 

1100M Comparative analysis of electronic-health-record-driven and conventional cohort-driven genomic research (poster)

Heart Disease

2473T Population diversity and the genetics of hypertrophic cardiomyopathy (poster)

Immune disorders

81 A mutation in transferrin receptor 1 that disrupts iron internalization causes a novel immunodeficiency (platform presentation)

Imprinting disorders

489M Evolutionary conservation identifies 17 novel candidate genes for human imprinting disorders (poster)

Neuromuscular disorders

377 MicroRNA-486 overexpression delays the disease pathology of muscular dystrophy (platform presentation)

2708S Congenital ophthalmoplegia: Dysinnervation, myasthenia or myopathy? Can genetics have an answer? (poster)

2876M A transgenic zebrafish model for facioscapulohumeral dystrophy (poster)

Neuropsychiatric disorders

346 Comprehensive analysis of genome-wide association data highlights synaptic transmission, dendritic spines and post-synaptic density in schizophrenia (platform presentation)

1054S RNA-seq variant discovery identifies differential A-to-I RNA editing in autistic brains (poster)

1153S Homozygous deletions of non-coding transcriptional control sites in autism spectrum disorder (poster)

1234S A population-based approach for detecting rare recessive variation implicates the cholesterol biosynthesis gene DHCR24 in autism spectrum disorder and intellectual disability (poster)

2770T Utility of genetic testing in patients with suspected fetal alcohol spectrum disorder (poster)

Obesity and diabetes

277 Integrating metabolite, BMI and genetic data in phenotypic extremes, drawn from 50,000 samples, to assess causality of metabolite levels in obesity (platform presentation)

1109M Influence of BMI- and lipid-associated variants on longitudinal phenotypes (poster)

Rare disease

2973T The Gene Discovery Core: four years of experience determining the genetic basis of orphan diseases (poster)

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