Categoría: Articulos
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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…
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Advanced paternal age has sex-specific effects on fetal brain gene expression, mouse study suggests
When genes are «expressed,» it is like reading an instruction manual to create things the body needs—such as proteins or RNA. It is an important process in regulating normal cellular functions. Understanding more about gene expression can reveal insigh…
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Advanced paternal age has sex-specific effects on fetal brain gene expression, mouse study suggests
When genes are «expressed,» it is like reading an instruction manual to create things the body needs—such as proteins or RNA. It is an important process in regulating normal cellular functions. Understanding more about gene expression can reveal insigh…
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New CRISPR approach targets gene fusions found in 1 in 5 cancers
Peter Mac scientists have developed a way to precisely target the «unique molecular fingerprint» created when two genes become abnormally fused together, a discovery that could lead to a new way to treat a wide array of cancers.
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New CRISPR approach targets gene fusions found in 1 in 5 cancers
Peter Mac scientists have developed a way to precisely target the «unique molecular fingerprint» created when two genes become abnormally fused together, a discovery that could lead to a new way to treat a wide array of cancers.
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Fast-tracked genetic testing helping sick kids
A new genetic testing approach for sick children with immune conditions could slash diagnosis waiting times from 12 months to as little as two weeks, University of Queensland research has found.
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Fast-tracked genetic testing helping sick kids
A new genetic testing approach for sick children with immune conditions could slash diagnosis waiting times from 12 months to as little as two weeks, University of Queensland research has found.