Categoría: Articulos
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Spouses mattered more than genes for the risk of severe COVID-19
Why did some people become severely ill with COVID-19 while others experienced only mild symptoms? Associate professor Maria Timofeeva and assistant professor Jacob Krabbe Pedersen from the Department of Public Health at the University of Southern Denm…
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Gene variants that can cause sudden death mapped
Using a high-throughput technique, an international collaboration led by Vanderbilt Health researchers has created a «map» of 1,757 genetic variations that can trigger a life-threatening heart rhythm disorder called long QT syndrome.
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Gene variants that can cause sudden death mapped
Using a high-throughput technique, an international collaboration led by Vanderbilt Health researchers has created a «map» of 1,757 genetic variations that can trigger a life-threatening heart rhythm disorder called long QT syndrome.
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Clinical presentation and treatment strategies of proximal femoral fibrous dysplasia without deformity
Background Results Conclusions
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Ultrafast Workflow for Accurate Full-length ABO Genotyping using Nanopore Sequencing
Rapid ABO discrepancy resolution is critical for transfusion safety. However, current short-read sequencing cannot resolve phase across the 21.9 kb ABO gene. Here, the aim is to developed a nanopore-based workflow for full-length ABO genotyping. A work…
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Effect of tafamidis treatment on echocardiographic measures of heart structure and function in Chinese patients with transthyretin amyloid cardiomyopathy
Background Methods Results Conclusion …
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Ultrafast Workflow for Accurate Full-Length ABO Genotyping Using Nanopore Sequencing
Rapid ABO discrepancy resolution is critical for transfusion safety. However, current short-read sequencing cannot resolve phase across the 21.9-kb ABO gene. Here, the aim is to develop a nanopore-based workflow for full-length ABO genotyping. A workfl…
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Case Report: A novel deep intronic MFSD8 splice-altering variant causes CLN7 disease through pseudoexon inclusion
Pathogenic deep intronic variants are an underrecognized cause of inherited disorders because they are typically missed by exon-focused sequencing and often require functional validation. We describe a patient with classic CLN7 disease caused by a prev…
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A P2RX2 exon-2 complex indel disrupts splicing and reduces P2X2 output: implications for DFNA41 and variable expressivity
BackgroundP2RX2 encodes the ATP-gated P2X2 receptor associated with autosomal dominant non-syndromic hearing loss 41 (DFNA41). DFNA41 is characterized by progressive sensorineural hearing loss and an increased susceptibility to acoustic trauma. However…
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Technical Advance Efficient and ultrasensitive identification of clinical somatic mutations by modified single duplex DNA sequencing
Conventional next-generation sequencing (NGS) implementations have poor sensitivity for low prevalence mutations due to their inherent error rate. Error suppression that reconciles individual strands of a DNA duplex can improve sensitivity. Concatenati…