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Updated: Jan 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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基因列表选择问题:产前外体序列测试中的错误诊断-PanelApp R21和HPO驱动的基因列表与基于OMIM的基因列表

Victoria Ardiles-Ruesjas1,2, Laia Rodriguez-Revenga2,3,4, Montse Pauta1

  • 1Fetal Medicine Research Center, BCNatal, Hospital Clínic de Barcelona, Barcelona, Catalonia, Spain.

Prenatal diagnosis
|January 4, 2026
PubMed
概括

No abstract available in PubMed .

关键词:
遗传咨询服务遗传服务基因检测人类遗传学遗传疾病在产前诊断

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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

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相关概念视频

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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