[HTML][HTML] The genomics of schizophrenia: update and implications
P Giusti-Rodríguez, PF Sullivan - The Journal of clinical …, 2013 - Am Soc Clin Investig
Schizophrenia is strongly familial yet rarely (if ever) exhibits classical Mendelian inheritance
patterns. The advent of large-scale genotyping and sequencing projects has yielded large …
patterns. The advent of large-scale genotyping and sequencing projects has yielded large …
Integrative functional genomic analysis of human brain development and neuropsychiatric risks
INTRODUCTION The brain is responsible for cognition, behavior, and much of what makes
us uniquely human. The development of the brain is a highly complex process, and this …
us uniquely human. The development of the brain is a highly complex process, and this …
Cross-ancestry genomic research: time to close the gap
…, JL Montalvo-Ortiz, P Giusti-Rodriguez… - …, 2022 - nature.com
Genome-wide association studies (GWAS) have revolutionized our ability to understand the
genetic underpinnings of biomedical traits; however, their extreme Eurocentric bias has …
genetic underpinnings of biomedical traits; however, their extreme Eurocentric bias has …
Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
Characterized primarily by a low body-mass index, anorexia nervosa is a complex and
serious illness 1 , affecting 0.9–4% of women and 0.3% of men 2 , 3 – 4 , with twin-based …
serious illness 1 , affecting 0.9–4% of women and 0.3% of men 2 , 3 – 4 , with twin-based …
A comparison of ten polygenic score methods for psychiatric disorders applied across multiple cohorts
…, L Georgieva, I Giegling, P Giusti-Rodríguez… - Biological …, 2021 - Elsevier
Background Polygenic scores (PGSs), which assess the genetic risk of individuals for a disease,
are calculated as a weighted count of risk alleles identified in genome-wide association …
are calculated as a weighted count of risk alleles identified in genome-wide association …
Comparative genomic evidence for the involvement of schizophrenia risk genes in antipsychotic effects
Genome-wide association studies (GWAS) for schizophrenia have identified over 100 loci
encoding> 500 genes. It is unclear whether any of these genes, other than dopamine receptor …
encoding> 500 genes. It is unclear whether any of these genes, other than dopamine receptor …
[HTML][HTML] Non-coding variability at the APOE locus contributes to the Alzheimer's risk
…, FC Ip, Y Chen, N Mullapudi, P Giusti-Rodríguez… - Nature …, 2019 - nature.com
Alzheimer’s disease (AD) is a leading cause of mortality in the elderly. While the coding
change of APOE-ε4 is a key risk factor for late-onset AD and has been believed to be the only …
change of APOE-ε4 is a key risk factor for late-onset AD and has been believed to be the only …
[PDF][PDF] Estimation of genetic correlation via linkage disequilibrium score regression and genomic restricted maximum likelihood
…, L Georgieva, I Giegling, P Giusti-Rodríguez… - The American Journal of …, 2018 - cell.com
Genetic correlation is a key population parameter that describes the shared genetic architecture
of complex traits and diseases. It can be estimated by current state-of-art methods, ie, …
of complex traits and diseases. It can be estimated by current state-of-art methods, ie, …
[HTML][HTML] Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia
…, J Wen, S Netotea, P Giusti-Rodriguez… - Nature …, 2020 - nature.com
… Second, we used the “easy-HiC” readouts obtained from adult temporal cortex as described
in Giusti-Rodríguez et al. . “Easy Hi–C” was applied to six postmortem samples (N = 3 adult …
in Giusti-Rodríguez et al. . “Easy Hi–C” was applied to six postmortem samples (N = 3 adult …
Using three-dimensional regulatory chromatin interactions from adult and fetal cortex to interpret genetic results for psychiatric disorders and cognitive traits
Most human genetic studies assume that connections between genomic regions are adequately
captured by linkage disequilibrium (LD). LD reflects historical events that shaped the …
captured by linkage disequilibrium (LD). LD reflects historical events that shaped the …