The phenotypic legacy of admixture between modern humans and Neandertals

CN Simonti, B Vernot, L Bastarache, E Bottinger… - Science, 2016 - science.org
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 …

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

JNC Bailey, SJ Loomis, JH Kang, RR Allingham… - Nature …, 2016 - nature.com
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 …

Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects and tissue-specific enrichment of eQTLs

JE Below, EJ Parra, ER Gamazon, J Torres… - Scientific reports, 2016 - nature.com
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 …

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 …

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 …

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 …

A childhood acute lymphoblastic leukemia genome-wide association study identifies novel sex-specific risk variants

SK Singh, PJ Lupo, ME Scheurer, A Saxena… - Medicine, 2016 - journals.lww.com
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 …

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 …

Integrative genomics analyses unveil downstream biological effectors of disease-specific polymorphisms buried in intergenic regions

H Li, I Achour, L Bastarache, J Berghout… - NPJ genomic …, 2016 - nature.com
Functionally altered biological mechanisms arising from disease-associated polymorphisms,
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

A Verma, AO Basile, Y Bradford, H Kuivaniemi… - PLoS …, 2016 - journals.plos.org
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 …