User profiles for G. Povysil
Gundula PovysilColumbia University Verified email at cumc.columbia.edu Cited by 1621 |
Rare-variant collapsing analyses for complex traits: guidelines and applications
The first phase of genome-wide association studies (GWAS) assessed the role of common
variation in human disease. Advances optimizing and economizing high-throughput …
variation in human disease. Advances optimizing and economizing high-throughput …
Rare genetic causes of complex kidney and urological diseases
Although often considered a single-entity, chronic kidney disease (CKD) comprises many
pathophysiologically distinct disorders that result in persistently abnormal kidney structure and/…
pathophysiologically distinct disorders that result in persistently abnormal kidney structure and/…
[PDF][PDF] Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals
Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) causes coronavirus disease
2019 (COVID-19), a respiratory illness that can result in hospitalization or death. We used …
2019 (COVID-19), a respiratory illness that can result in hospitalization or death. We used …
[HTML][HTML] Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19
A recent report found that rare predicted loss-of-function (pLOF) variants across 13 candidate
genes in TLR3- and IRF7-dependent type I IFN pathways explain up to 3.5% of severe …
genes in TLR3- and IRF7-dependent type I IFN pathways explain up to 3.5% of severe …
[HTML][HTML] Causal genetic variants in stillbirth
…, M Ernst, N Lippa, H Holmes, G Povysil… - … England Journal of …, 2020 - Mass Medical Soc
Background In the majority of cases, the cause of stillbirth remains unknown despite detailed
clinical and laboratory evaluation. Approximately 10 to 20% of stillbirths are attributed to …
clinical and laboratory evaluation. Approximately 10 to 20% of stillbirths are attributed to …
panelcn. MOPS: Copy‐number detection in targeted NGS panel data for clinical diagnostics
G Povysil, A Tzika, J Vogt, V Haunschmid… - Human …, 2017 - Wiley Online Library
Targeted next‐generation‐sequencing (NGS) panels have largely replaced Sanger sequencing
in clinical diagnostics. They allow for the detection of copy‐number variations (CNVs) in …
in clinical diagnostics. They allow for the detection of copy‐number variations (CNVs) in …
[HTML][HTML] Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
Host genetics is a key determinant of COVID-19 outcomes. Previously, the COVID-19 Host
Genetics Initiative genome-wide association study used common variants to identify multiple …
Genetics Initiative genome-wide association study used common variants to identify multiple …
Rare and Common Variants in KIF15 Contribute to Genetic Risk of Idiopathic Pulmonary Fibrosis
Rationale: Genetic studies of idiopathic pulmonary fibrosis (IPF) have improved our
understanding of this disease, but not all causal loci have been identified. Objectives: To identify …
understanding of this disease, but not all causal loci have been identified. Objectives: To identify …
Assessing the role of rare genetic variation in patients with heart failure
Importance Sequencing studies have identified causal genetic variants for distinct subtypes
of heart failure (HF) such as hypertrophic or dilated cardiomyopathy. However, the role of …
of heart failure (HF) such as hypertrophic or dilated cardiomyopathy. However, the role of …
Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis
… Povysil, B. Wang; clinical analyses: CA Newton; interpretation of results: D. Zhang, CA
Newton, D. … Wang, G. Povysil and G. Raghu have nothing to disclose. …
Newton, D. … Wang, G. Povysil and G. Raghu have nothing to disclose. …