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Updated: Jun 24, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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一个GA4GHPhenopackets的集体:为基因组诊断和发现进行案例级表型化

Daniel Danis1,2, Michael J Bamshad3,4,5, Yasemin Bridges6

  • 1The Jackson Institute for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA.

medRxiv : the preprint server for health sciences
|June 10, 2024
PubMed
概括

一个新的phenopacket集合,phenopacket-store,提供标准化的临床和基因组数据. 此资源有助于开发和测试用于基因组诊断和疾病研究的软件.

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相关概念视频

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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