Results 131 to 140 of about 510,619 (336)

Reference‐Guided Chromosome‐by‐Chromosome de novo Assembly at Scale Using Low‐Coverage High‐Fidelity Long‐Reads with HiFiCCL

open access: yesAdvanced Science, EarlyView.
HiFiCCL, as the first assembly framework specifically designed for low‐coverage high‐fidelity reads, improves the assembly quality of existing assemblers and also enhances downstream applications such as large structural variant (SV) detection (>10 000 bp), synteny analysis, pangenome graph construction, and graph‐based individual‐specific germline SVs
Zhongjun Jiang   +9 more
wiley   +1 more source

Rare Postoperative Complication of Esophageal Atresia after Open Thoracotomy Repair in Newborn—Lung Torsion: A Case Report

open access: yesPediatric Reports
In this case report, we described a rare complication—lung torsion after esophageal atresia repair in a newborn. Torsion of the lung is a critical condition in which either the entire lung or a lung lobe twists, leading to occlusion of blood vessels and ...
Szymon Gryboś   +2 more
doaj   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

open access: yesAdvanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li   +22 more
wiley   +1 more source

The Role of Omega-3 Polyunsaturated Fatty Acids in Patients with Metabolic Syndrome and Endothelial Dysfunction

open access: yesMedicina
Background and Objectives: Metabolic syndrome (MS) represents several diseases encompassing a heterogeneous group of biochemical and physiological abnormalities characterized by structural and functional alterations in the myocardium, including the ...
Andrej Dzupina   +6 more
doaj   +1 more source

Development and preliminary evaluation of a 90 K Axiom® SNP array for the allo-octoploid cultivated strawberry Fragaria × ananassa [PDF]

open access: gold, 2015
Nahla Bassil   +27 more
openalex   +1 more source

Mendelian Randomization and Double Machine Learning Modeling Reveal Brain Imaging‐Derived Phenotypes as Functional Contributors to 18 Autoimmune Inflammatory Diseases

open access: yesAdvanced Science, EarlyView.
This schematic integrates the eight statistically significant causal relationships identified between 1,366 brain imaging‐derived phenotypes (IDPs) and 18 autoimmune inflammatory diseases (AIDs). Arrows indicate the direction of causality inferred from bidirectional two‐sample MR analyses.
Jinbin Chen   +8 more
wiley   +1 more source

Pilot study: Significance of I-FABP2 in the diagnosis of acute abdominal episodes in children

open access: yesJournal of Pediatric Surgery Open
Background: Pediatric abdominal conditions, including necrotizing gastrointestinal diseases, pose significant diagnostic challenges due to clinic symptoms and limited diagnostic tools.
Szymon Gryboś   +3 more
doaj   +1 more source

IFITM3, TLR3, and CD55 Gene SNPs and Cumulative Genetic Risks for Severe Outcomes in Chinese Patients With H7N9/H1N1pdm09 Influenza [PDF]

open access: bronze, 2017
Nelson Lee   +18 more
openalex   +1 more source

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