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Updated: May 7, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

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通过将拼接工具集成到NGS管道中,为遗传性视网膜变症进行新的遗传诊断

Elena Fernández-Suárez1,2, María González-Del Pozo1,2, Cristina Méndez-Vidal1,2

  • 1Institute of Biomedicine of Seville, IBiS/University Hospital Virgen del Rocio/ CSIC/University of Seville, Seville, Spain.

NPJ genomic medicine
|July 2, 2025
PubMed
概括

鉴定spliceogenic变体对于诊断遗传性疾病至关重要. 这项研究引入了一种结合拼接预测因子的新策略,以提高遗传视网膜缩 (IRD) 病例的诊断产量.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
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Forward genetic screens
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Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...