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Updated: May 11, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

来自GENCOV和HostSeq的COVID-19基因组测序研究中的临床显著DNA变异

Erika Frangione1,2, Radhika Mahajan1,2, Juan De Los Rios1,3

  • 1Mount Sinai Hospital, Toronto, Ontario, Canada.

Journal of medical genetics
|February 27, 2026
PubMed
概括

许多致病变体在公开数据库ClinVar中丢失或有冲突的数据. 定期重新评估和更新对于准确的遗传疾病解释至关重要.

关键词:
数据库, 遗传学, 遗传学遗传研究 遗传研究人口遗传学,人口遗传学基因组学就是基因组学.

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Comparing Copy Number Variations and SNPs

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