Genetics of chronic obstructive pulmonary disease: understanding the pathobiology and heterogeneity of a complex disorder
MH Cho, BD Hobbs, EK Silverman - The Lancet Respiratory …, 2022 - thelancet.com
Chronic obstructive pulmonary disease (COPD) is a deadly and highly morbid disease.
Susceptibility to and heterogeneity of COPD are incompletely explained by environmental …
Susceptibility to and heterogeneity of COPD are incompletely explained by environmental …
The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases
AJ Alsheikh, S Wollenhaupt, EA King, J Reeb… - BMC medical …, 2022 - Springer
Background The remarkable growth of genome-wide association studies (GWAS) has
created a critical need to experimentally validate the disease-associated variants, 90% of …
created a critical need to experimentally validate the disease-associated variants, 90% of …
MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect
Multiplex assays of variant effect (MAVEs), such as deep mutational scans and massively
parallel reporter assays, test thousands of sequence variants in a single experiment. Despite …
parallel reporter assays, test thousands of sequence variants in a single experiment. Despite …
Genetics of COPD
EK Silverman - Annual review of physiology, 2020 - annualreviews.org
Although chronic obstructive pulmonary disease (COPD) risk is strongly influenced by
cigarette smoking, genetic factors are also important determinants of COPD. In addition to …
cigarette smoking, genetic factors are also important determinants of COPD. In addition to …
Editing GWAS: experimental approaches to dissect and exploit disease-associated genetic variation
Genome-wide association studies (GWAS) have uncovered thousands of genetic variants
that influence risk for human diseases and traits. Yet understanding the mechanisms by …
that influence risk for human diseases and traits. Yet understanding the mechanisms by …
Personalized medicine for patients with COPD: where are we?
FME Franssen, P Alter, N Bar… - … journal of chronic …, 2019 - Taylor & Francis
Chronic airflow limitation is the common denominator of patients with chronic obstructive
pulmonary disease (COPD). However, it is not possible to predict morbidity and mortality of …
pulmonary disease (COPD). However, it is not possible to predict morbidity and mortality of …
Focus on your locus with a massively parallel reporter assay
A growing number of variants associated with risk for neurodevelopmental disorders have
been identified by genome-wide association and whole genome sequencing studies. As …
been identified by genome-wide association and whole genome sequencing studies. As …
Functional characterization of human genomic variation linked to polygenic diseases
The burden of human disease lies predominantly in polygenic diseases. Since the early
2000s, genome-wide association studies (GWAS) have identified genetic variants and loci …
2000s, genome-wide association studies (GWAS) have identified genetic variants and loci …
Precision approaches to chronic obstructive pulmonary disease management
M Moll, EK Silverman - Annual Review of Medicine, 2024 - annualreviews.org
Chronic obstructive pulmonary disease (COPD) is a leading cause of morbidity and mortality
worldwide. COPD heterogeneity has hampered progress in developing pharmacotherapies …
worldwide. COPD heterogeneity has hampered progress in developing pharmacotherapies …
Genomic signatures of selection, local adaptation and production type characterisation of East Adriatic sheep breeds
Background The importance of sheep breeding in the Mediterranean part of the eastern
Adriatic has a long tradition since its arrival during the Neolithic migrations. Sheep …
Adriatic has a long tradition since its arrival during the Neolithic migrations. Sheep …