Exhibit Hall, Level 1
11:30am - 1:30pm
Bioinformatics and Computational Approaches
Computational prediction and molecular validation of novel therapeutic targets for potent splicing modulators.
Towards translating genetic findings of polygenic diseases to personalized drug development: Proof-of-concept study for drug combinations to target multiple genes.
Bayesian multivariate analysis of RNA sequencing data to identify brain-specific protein-protein interactions.
Improving SNP array copy-number variant calling using site-specific variance models and windowed intensity normalization.
A framework for using protein structure specific features to elucidate ambiguous non-synonymous single nucleotide variants.
Development and validation of computational approaches for GWAS-informed target gene identification.
Detection of signal regions in whole genome genotyping and sequencing association studies using scan statistics.
Genome-wide trans-ethnic meta-analysis for a novel sleep apnea endophenotype.
Complex Traits and Polygenic Disorders
Rare coding variant association analysis for anthropometric traits using more than 25,000 exome-sequenced samples from ExAC.
Genome-wide meta-analysis of macronutrient intake identifies two novel loci: Cohorts for heart and aging research in genomic epidemiology.
Genome wide association in Peru demonstrates that progression to active tuberculosis is a polygenic and highly heritable trait.
PheWAS meta-analyses on bone microarchitecture phenotypes assessed by HR-pQCT and CRISPR/Cas9 gene-editing in zebrafish identify novel genetic risks of osteoporosis and fractures: The Bone Microarchitecture International Consortium (BoMIC).
Alzheimer’s disease exome sequencing study in the Finnish population isolate.
Using genetic diversity from East Asia to improve the biological insight into schizophrenia.
Meta-analysis of GWAS elucidates genetic architecture of dental caries.
Transferability of polygenic risk prediction across diverse and admixed populations.
Genetic analysis of lipids in >300,000 participants in the Million Veteran Program.
Epigenetics and Gene Regulation
Cis regulatory variation determines dynamic HLA-DQB1 allelic expression in response to T cell activation.
Annotating the regulatory genome of CD4+ T cells: Predicting active in vivo transcription factor binding sites.
Genome Structure and Function
MethylHiC reveals long-range genetic-epigenetic and epigenetic-epigenetic interactions within the same single molecule.
Molecular and Cytogenetic Diagnostics
Clinical variant reclassification and scaling support for the return of updated genetic results.
Prenatal, Perinatal, and Reproductive Genetics
Uncovering novel cytogenetic and molecular etiologies for infertility.
Prenatal NGS testing confounded by low levels of maternal cell contamination.
Statistical Genetics and Genetic Epidemiology
Genome-wide search for genetic loci perturbing gene co-expression networks in Alzheimer’s disease.
Diagnostic changes leading to ASDs' prevalence increase altered the disorders' average genetic architecture.
Identifying highly damaging missense mutations in over 10,000 developmental disorder trios using a regional missense constraint metric.
Statistical and population genetics of extreme phenotypes.
Estimating cell-type-specific DNA methylation effects in the presence of cellular heterogeneity.
Statistical framework for biological interpretation and improvement of genetic association studies.
Meta-analysis of de novo variants from 9246 probands finds that genes previously associated with autism spectrum disorder harbor more de novo variants in probands with intellectual disability/developmental delay without autism.