[HTML][HTML] Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
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 …
architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of …
Reference-based phasing using the Haplotype Reference Consortium panel
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 …
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 …
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
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 …
documented, but these genetic studies have traditionally ignored people from some parts of …
Next-generation genotype imputation service and methods
… 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 ) …
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. …
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, …
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
… 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 …
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
… 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 …
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 …
coronary artery disease (CAD) and are mainly determined by variation in LPA. Up to 70% of the …