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Updated: May 4, 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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扩大基因组再分析以解锁诊断和转变罕见疾病护理

Shira Rockowitz1, Wanqing Shao2, Courtney French2

  • 1Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.

HGG advances
|February 20, 2026
PubMed
概括

积极基因组再分析 (PGR) 通过利用综合数据为罕见疾病诊断提供了可行的解决方案. 这种方法可以识别潜在的致病变体,改善临床测序中的诊断产量.

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相关概念视频

Nursing Diagnosis01:22

Nursing Diagnosis

Following assessment, a nursing diagnosis is the next step in the nursing process. It begins after the nurse has collected and recorded the patient data. The purpose of diagnosing is to identify how the client responds to actual or potential health processes, identify factors that bestow or that cause health problems, the etiologies, and identify resources or strengths the individual, group, or community can draw on to prevent or resolve problems.
The nursing diagnosis focuses on evidence-based...
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