ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

K Wang, M Li, H Hakonarson - Nucleic acids research, 2010 - academic.oup.com
High-throughput sequencing platforms are generating massive amounts of genetic variation
data for diverse genomes, but it remains a challenge to pinpoint a small subset of …

Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS

DL Nicolae, E Gamazon, W Zhang, S Duan… - PLoS …, 2010 - journals.plos.org
Although genome-wide association studies (GWAS) of complex traits have yielded more
reproducible associations than had been discovered using any other approach, the loci …

[HTML][HTML] Emerging role of microRNAs in drug response

W Zhang, ME Dolan - Current opinion in molecular therapeutics, 2010 - ncbi.nlm.nih.gov
Current pharmacogenomic studies have begun to integrate genetics, gene expression and
pharmacologic phenotypes. MicroRNAs (miRNAs), small RNAs (21–25 nucleotides) found …

Impact of the 1000 genomes project on the next wave of pharmacogenomic discovery

W Zhang, ME Dolan - Pharmacogenomics, 2010 - Taylor & Francis
The 1000 Genomes Project aims to provide detailed genetic variation data on over 1000
genomes from worldwide populations using the next-generation sequencing technologies …

Chemotherapeutic drug susceptibility associated SNPs are enriched in expression quantitative trait loci

ER Gamazon, RS Huang, NJ Cox… - Proceedings of the …, 2010 - National Acad Sciences
Pharmacogenomics has employed candidate gene studies and, more recently, genome-
wide association studies (GWAS) in efforts to identify loci associated with drug response …

Exprtarget: an integrative approach to predicting human microRNA targets

ER Gamazon, HK Im, S Duan, YA Lussier, NJ Cox… - PloS one, 2010 - journals.plos.org
Variation in gene expression has been observed in natural populations and associated with
complex traits or phenotypes such as disease susceptibility and drug response. Gene …

PACdb: a database for cell-based pharmacogenomics

ER Gamazon, S Duan, W Zhang… - Pharmacogenetics …, 2010 - journals.lww.com
Abstract We have developed Pharmacogenomics And Cell database (PACdb), a results
database that makes available relationships between single nucleotide polymorphisms …

Multigenic modeling of complex disease by random forests

YV Sun - Advances in genetics, 2010 - Elsevier
The genetics and heredity of complex human traits have been studied for over a century.
Many genes have been implicated in these complex traits. Genome-wide association …

SeqAnt: a web service to rapidly identify and annotate DNA sequence variations

AC Shetty, P Athri, K Mondal, VL Horner… - BMC …, 2010 - Springer
Background The enormous throughput and low cost of second-generation sequencing
platforms now allow research and clinical geneticists to routinely perform single experiments …

Promoter Variant of PIK3C3 Is Associated with Autoimmunity against Ro and Sm Epitopes in African‐American Lupus Patients

SN Kariuki, BS Franek, RA Mikolaitis… - BioMed Research …, 2010 - Wiley Online Library
The PIK3C3 locus was implicated in case‐case genome‐wide association study of systemic
lupus erythematosus (SLE) which we had performed to detect genes associated with …