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UnknownSmall variant benchmark from a complete assembly of X and Y chromosomes.
The sex chromosomes contain complex, important genes impacting medical phenotypes, but differ from the autosomes in their ploidy and large repetitive regions. To enable technology developers along with research and clinical laboratories to evaluate variant detection on male sex chromosomes X and Y, ...
S-EPMC11711550 | biostudies-literature
UnknownPrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions.
The precisionFDA Truth Challenge V2 aimed to assess the state of the art of variant calling in challenging genomic regions. Starting with FASTQs, 20 challenge participants applied their variant-calling pipelines and submitted 64 variant call sets for one or more sequencing technologies (Illumina, Pa...
S-EPMC9205427 | biostudies-literature
UnknownIdentification and validation of clinical phenotypes with prognostic implications in patients admitted to hospital with COVID-19: a multicentre cohort study.

Background

The clinical presentation of COVID-19 in patients admitted to hospital is heterogeneous. We aimed to determine whether clinical phenotypes of patients with COVID-19 can be derived from clinical data, to assess the reproducibility of these phenotypes and correlation with prognosis,...
S-EPMC7906623 | biostudies-literature
UnknownCharacteristics and predictors of death among 4035 consecutively hospitalized patients with COVID-19 in Spain.

Objectives

To analyse the characteristics and predictors of death in hospitalized patients with coronavirus disease 2019 (COVID-19) in Spain.

Methods

A retrospective observational study was performed of the first consecutive patients hospitalized with COVID-19 confirmed by real-time P...
S-EPMC7399713 | biostudies-literature
UnknownAdd-On Treatment With Zilebesiran for Inadequately Controlled Hypertension: The KARDIA-2 Randomized Clinical Trial.

Importance

In prior monotherapy studies of patients with hypertension, single subcutaneous doses of zilebesiran, an investigational RNA interference therapeutic, reduced serum angiotensinogen levels and systolic blood pressure (SBP) at 3 and 6 months.

Objective

To evaluate the efficac...
S-EPMC12120674 | biostudies-literature
UnknownA second update on mapping the human genetic architecture of COVID-19.
Not available
S-EPMC10482689 | biostudies-literature
UnknownSARS-CoV-2 vaccination modelling for safe surgery to save lives: data from an international prospective cohort study.

Background

Preoperative SARS-CoV-2 vaccination could support safer elective surgery. Vaccine numbers are limited so this study aimed to inform their prioritization by modelling.

Methods

The primary outcome was the number needed to vaccinate (NNV) to prevent one COVID-19-related death ...
S-EPMC7995808 | biostudies-literature
UnknownExtended pharmacological thromboprophylaxis and clinically relevant venous thromboembolism after major abdominal and pelvic surgery: international, prospective, propensity score-weighted cohort study.

Background

There is low-certainty evidence on the impact of extended pharmacological prophylaxis on venous thromboembolism-associated morbidity and mortality. The aim of this study was to determine the efficacy and safety of extended prophylaxis after major abdominopelvic surgery for the pre...
S-EPMC11894929 | biostudies-literature
UnknownTiming of surgery following SARS-CoV-2 infection: an international prospective cohort study.
Peri-operative SARS-CoV-2 infection increases postoperative mortality. The aim of this study was to determine the optimal duration of planned delay before surgery in patients who have had SARS-CoV-2 infection. This international, multicentre, prospective cohort study included patients undergoing ele...
S-EPMC8206995 | biostudies-literature
UnknownSARS-CoV-2 infection and venous thromboembolism after surgery: an international prospective cohort study.
SARS-CoV-2 has been associated with an increased rate of venous thromboembolism in critically ill patients. Since surgical patients are already at higher risk of venous thromboembolism than general populations, this study aimed to determine if patients with peri-operative or prior SARS-CoV-2 were at...
S-EPMC8652887 | biostudies-literature
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