User profiles for G. Povysil

Gundula Povysil

Columbia University
Verified email at cumc.columbia.edu
Cited by 1621

Rare-variant collapsing analyses for complex traits: guidelines and applications

G Povysil, S Petrovski, J Hostyk, V Aggarwal… - Nature Reviews …, 2019 - nature.com
The first phase of genome-wide association studies (GWAS) assessed the role of common
variation in human disease. Advances optimizing and economizing high-throughput …

Rare genetic causes of complex kidney and urological diseases

EE Groopman, G Povysil, DB Goldstein… - Nature Reviews …, 2020 - nature.com
Although often considered a single-entity, chronic kidney disease (CKD) comprises many
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

…, G Sirugo, MD Ritchie, DJ Rader, G Povysil… - The American Journal of …, 2021 - cell.com
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 …

[HTML][HTML] Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19

G Povysil, G Butler-Laporte, N Shang… - The Journal of …, 2021 - Am Soc Clin Investig
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 …

[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 …

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 …

[HTML][HTML] Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

G Butler-Laporte, G Povysil, JA Kosmicki… - PLoS …, 2022 - journals.plos.org
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 …

Rare and Common Variants in KIF15 Contribute to Genetic Risk of Idiopathic Pulmonary Fibrosis

D Zhang, G Povysil, PH Kobeissy, Q Li… - American journal of …, 2022 - atsjournals.org
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 …

Assessing the role of rare genetic variation in patients with heart failure

G Povysil, O Chazara, KJ Carss, SVV Deevi… - JAMA …, 2021 - jamanetwork.com
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 …

Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis

…, G Povysil, I Noth, FJ Martinez, G Raghu… - European …, 2022 - Eur Respiratory Soc
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. …