Molecular quantitative trait loci
Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …
genetics, as much of disease-associated variation is located in non-coding regions with …
[HTML][HTML] Evaluation of noninvasive biospecimens for transcriptome studies
M Martorella, S Kasela, R Garcia-Flores, A Gokden… - BMC genomics, 2023 - Springer
Transcriptome studies disentangle functional mechanisms of gene expression regulation
and may elucidate the underlying biology of disease processes. However, the types of …
and may elucidate the underlying biology of disease processes. However, the types of …
Refining the resolution of the yeast genotype-phenotype map using single-cell RNA-sequencing
Genotype-phenotype mapping (GPM) or the association of trait variation to genetic variation
has been a long-lasting problem in biology. The existing approaches to this problem …
has been a long-lasting problem in biology. The existing approaches to this problem …
[HTML][HTML] Cell-type deconvolution of bulk-blood RNA-seq reveals biological insights into neuropsychiatric disorders
Genome-wide association studies (GWASs) have uncovered susceptibility loci associated
with psychiatric disorders such as bipolar disorder (BP) and schizophrenia (SCZ). However …
with psychiatric disorders such as bipolar disorder (BP) and schizophrenia (SCZ). However …
Therapeutic targets for endometriosis: Genome-wide Mendelian randomization and colocalization analyses
P Zeng, L Lu, H Zhang, Y Li, S Tan, T Yu, H Zhou - Gene, 2024 - Elsevier
Background Endometriosis (EM) greatly affects women's reproductive health, identifying
new drug targets for EM is urgently needed. This study utilizes comprehensive genome-wide …
new drug targets for EM is urgently needed. This study utilizes comprehensive genome-wide …
[图书][B] Noninvasive, low-cost RNA-sequencing enhances discovery potential of transcriptome studies
M Martorella - 2023 - search.proquest.com
Transcriptome studies disentangle functional mechanisms of gene expression regulation
and may lend key insights into disease mechanisms. However, the cost of RNA-sequencing …
and may lend key insights into disease mechanisms. However, the cost of RNA-sequencing …
[PDF][PDF] Cell type deconvolution of bulk blood RNA-Seq to reveal biological insights of
T Boltz, T Schwarz, M Bot, K Hou… - Nat …, 2022 - researchinformation.umcutrecht.nl
Genome-wide association studies (GWAS) have uncovered susceptibility loci associated
with psychiatric disorders like bipolar disorder (BP) and schizophrenia (SCZ). However …
with psychiatric disorders like bipolar disorder (BP) and schizophrenia (SCZ). However …
[图书][B] Functional genomics study of neuropsychiatric disorders through integration of chromatin regulation, transcriptomics, and metabolomics
TA Boltz - 2023 - search.proquest.com
This dissertation examines significant risk loci identified through GWAS for neuropsychiatric
illness to prioritize causal variants and genes for future validation in functional assays. This …
illness to prioritize causal variants and genes for future validation in functional assays. This …
[图书][B] Low-coverage transcriptomics for understanding genetic regulation of complex traits
TA Schwarz - 2022 - search.proquest.com
Mapping genetic variants that regulate gene expression (eQTL mapping) in large-scale RNA
sequencing (RNA-seq) studies is often employed to understand functional consequences of …
sequencing (RNA-seq) studies is often employed to understand functional consequences of …
[PDF][PDF] Understanding retinal diseases with genotypic and transcriptomic data analysis
SAP MANDA - 2021 - minerva-access.unimelb.edu.au
The research work in this thesis was undertaken in the laboratory of Prof. Melanie Bahlo,
Population Health and Immunity Division, WEHI/Department of Medical Biology, University …
Population Health and Immunity Division, WEHI/Department of Medical Biology, University …