Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification
Polycystic ovary syndrome (PCOS) is among the most common disorders in women of
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …
Application of association mapping to understanding the genetic diversity of plant germplasm resources
IY Abdurakhmonov… - International journal of …, 2008 - Wiley Online Library
Compared to the conventional linkage mapping, linkage disequilibrium (LD)‐mapping,
using the nonrandom associations of loci in haplotypes, is a powerful high‐resolution …
using the nonrandom associations of loci in haplotypes, is a powerful high‐resolution …
Hundreds of variants clustered in genomic loci and biological pathways affect human height
H Lango Allen, K Estrada, G Lettre, SI Berndt… - Nature, 2010 - nature.com
Most common human traits and diseases have a polygenic pattern of inheritance: DNA
sequence variants at many genetic loci influence the phenotype. Genome-wide association …
sequence variants at many genetic loci influence the phenotype. Genome-wide association …
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
Case-parent trios were used in a genome-wide association study of cleft lip with and without
cleft palate. SNPs near two genes not previously associated with cleft lip with and without …
cleft palate. SNPs near two genes not previously associated with cleft lip with and without …
Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study
Background Hyperuricaemia, a highly heritable trait, is a key risk factor for gout. We aimed to
identify novel genes associated with serum uric acid concentration and gout. Methods …
identify novel genes associated with serum uric acid concentration and gout. Methods …
Individual common variants exert weak effects on the risk for autism spectrum disorders
While it is apparent that rare variation can play an important role in the genetic architecture
of autism spectrum disorders (ASDs), the contribution of common variation to the risk of …
of autism spectrum disorders (ASDs), the contribution of common variation to the risk of …
Application of t-SNE to human genetic data
W Li, JE Cerise, Y Yang, H Han - Journal of bioinformatics and …, 2017 - World Scientific
The t-distributed stochastic neighbor embedding t-SNE is a new dimension reduction and
visualization technique for high-dimensional data. t-SNE is rarely applied to human genetic …
visualization technique for high-dimensional data. t-SNE is rarely applied to human genetic …
Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene
RP Nair, PE Stuart, I Nistor, R Hiremagalore… - The American Journal of …, 2006 - cell.com
Previous studies have narrowed the interval containing PSORS1, the psoriasis-susceptibility
locus in the major histocompatibility complex (MHC), to an∼ 300-kb region containing HLA …
locus in the major histocompatibility complex (MHC), to an∼ 300-kb region containing HLA …
Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease
Kawasaki disease is a systemic vasculitis of unknown etiology, with clinical observations
suggesting a substantial genetic contribution to disease susceptibility. We conducted a …
suggesting a substantial genetic contribution to disease susceptibility. We conducted a …
Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE
Alzheimer's disease (AD) is a genetically complex and heterogeneous disorder. To date four
genes have been established to either cause early-onset autosomal-dominant AD (APP …
genes have been established to either cause early-onset autosomal-dominant AD (APP …