The phenotypic legacy of admixture between modern humans and Neandertals
Many modern human genomes retain DNA inherited from interbreeding with archaic
hominins, such as Neandertals, yet the influence of this admixture on human traits is largely …
hominins, such as Neandertals, yet the influence of this admixture on human traits is largely …
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma
Primary open-angle glaucoma (POAG) is a leading cause of blindness worldwide. To
identify new susceptibility loci, we performed meta-analysis on genome-wide association …
identify new susceptibility loci, we performed meta-analysis on genome-wide association …
Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects and tissue-specific enrichment of eQTLs
We performed genome-wide meta-analysis of lipid traits on three samples of Mexican and
Mexican American ancestry comprising 4,383 individuals and followed up significant and …
Mexican American ancestry comprising 4,383 individuals and followed up significant and …
Identification of genetic modifiers of age-at-onset for familial Parkinson's disease
EM Hill-Burns, OA Ross, WT Wissemann… - Human molecular …, 2016 - academic.oup.com
Parkinson's disease (PD) is the most common cause of neurodegenerative movement
disorder and the second most common cause of dementia. Genes are thought to have a …
disorder and the second most common cause of dementia. Genes are thought to have a …
RBP-Var: a database of functional variants involved in regulation mediated by RNA-binding proteins
F Mao, L Xiao, X Li, J Liang, H Teng, W Cai… - Nucleic acids …, 2016 - academic.oup.com
Transcription factors bind to the genome by forming specific contacts with the primary DNA
sequence; however, RNA-binding proteins (RBPs) have greater scope to achieve binding …
sequence; however, RNA-binding proteins (RBPs) have greater scope to achieve binding …
Genome-wide association study identifies variation at 6q25. 1 associated with survival in multiple myeloma
DC Johnson, N Weinhold, JS Mitchell, B Chen… - Nature …, 2016 - nature.com
Survival following a diagnosis of multiple myeloma (MM) varies between patients and some
of these differences may be a consequence of inherited genetic variation. In this study, to …
of these differences may be a consequence of inherited genetic variation. In this study, to …
A childhood acute lymphoblastic leukemia genome-wide association study identifies novel sex-specific risk variants
Childhood acute lymphoblastic leukemia (ALL) occurs more frequently in males. Reasons
behind sex differences in childhood ALL risk are unknown. In the present genome-wide …
behind sex differences in childhood ALL risk are unknown. In the present genome-wide …
Variants in adjacent oxytocin/vasopressin gene region and associations with ASD diagnosis and other autism related endophenotypes
SM Francis, E Kistner-Griffin, Z Yan, S Guter… - Frontiers in …, 2016 - frontiersin.org
Background: There has been increasing interest in oxytocin (peptide: OT, gene: OXT) as a
treatment pathway for neurodevelopmental disorders such as Autism Spectrum Disorder …
treatment pathway for neurodevelopmental disorders such as Autism Spectrum Disorder …
Integrative genomics analyses unveil downstream biological effectors of disease-specific polymorphisms buried in intergenic regions
Functionally altered biological mechanisms arising from disease-associated polymorphisms,
remain difficult to characterise when those variants are intergenic, or, fall between genes …
remain difficult to characterise when those variants are intergenic, or, fall between genes …
Phenome-Wide association study to explore relationships between immune system related genetic loci and complex traits and diseases
We performed a Phenome-Wide Association Study (PheWAS) to identify interrelationships
between the immune system genetic architecture and a wide array of phenotypes from two …
between the immune system genetic architecture and a wide array of phenotypes from two …