User profiles for S. Schoenherr

Sebastian Schoenherr

- Verified email at i-med.ac.at - Cited by 14833

Sarah Schönherr

- Verified email at uibk.ac.at - Cited by 421

[HTML][HTML] Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

…, S Schoenherr, DA Schwartz, JS Seo, S Seshadri… - Nature, 2021 - nature.com
The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic
architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of …

Reference-based phasing using the Haplotype Reference Consortium panel

…, HK Finucane, S Schoenherr, L Forer, S McCarthy… - Nature …, 2016 - nature.com
Haplotype phasing is a fundamental problem in medical and population genetics. Phasing
is generally performed via statistical phasing in a genotyped cohort, an approach that can …

Discontinuation versus continuation of renin-angiotensin-system inhibitors in COVID-19 (ACEI-COVID): a prospective, parallel group, randomised, controlled, open …

…, L von Stülpnagel, S Schoenherr… - The Lancet …, 2021 - thelancet.com
Background SARS-CoV-2 entry in human cells depends on angiotensin-converting enzyme
2, which can be upregulated by inhibitors of the renin–angiotensin system (RAS). We aimed …

[HTML][HTML] South Asian medical cohorts reveal strong founder effects and high rates of homozygosity

…, C Fuchsberger, L Forer, S Schoenherr… - Nature …, 2023 - nature.com
The benefits of large-scale genetic studies for healthcare of the populations studied are well
documented, but these genetic studies have traditionally ignored people from some parts of …

Next-generation genotype imputation service and methods

S Das, L Forer, S Schönherr, C Sidore, AE Locke… - Nature …, 2016 - nature.com
… In equation (2), θ k denotes the template switch probability between markers k and k+1 (analogous
to a recombination fraction), S k+1 is the genotype in the study sample, P(S k+1 |Y i ) …

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

…, AE Locke, J Luan, I Ntalla, V Nylander, S Schönherr… - Nature …, 2018 - nature.com
We expanded GWAS discovery for type 2 diabetes (T2D) by combining data from 898,130
European-descent individuals (9% cases), after imputation to high-density reference panels. …

Cognitive and academic functioning in children with sickle-cell disease

…, K Baldwin, B Goonan, S Schoenherr - Journal of Clinical …, 1993 - Taylor & Francis
… heterozygotes for hemoglobin S artd hemoglobin C chronic illnesses and congenital …
In addition, cognitive perfommance was compared across type of sickle-cell s!mdrome (HbSS, …

HaploGrep 2: mitochondrial haplogroup classification in the era of high-throughput sequencing

…, F Kronenberg, A Salas, S Schönherr - Nucleic acids …, 2016 - academic.oup.com
… identical (4.6–4.7 s), the Kimura2P distance showed a 33-fold higher wall-time (158.1 s).
The ratio was similar for the Li data (6.4 s for Kulczynksi versus 210 s for Kimura2P). With …

[HTML][HTML] Experiences with workflows for automating data-intensive bioinformatics

…, O Kulev, PP Łabaj, S Lampa, L Pireddu, S Schönherr… - Biology direct, 2015 - Springer
… Author’s response: We agree with the reviewer and have added a note and reference to
the discussion on workflow tools which from other domains which could be useful in …

Frequent LPA KIV-2 Variants Lower Lipoprotein(a) Concentrations and Protect Against Coronary Artery Disease

…, R Grüneis, S Di Maio, S Schoenherr… - Journal of the American …, 2021 - jacc.org
Background Lipoprotein(a) (Lp(a)) concentrations are a major independent risk factor for
coronary artery disease (CAD) and are mainly determined by variation in LPA. Up to 70% of the …