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Overview of candidate variants identified by exome sequencing.

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NIAID Data Ecosystem2026-03-08 收录
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% in the 1000 Genomes project were excluded. Based on recessive inheritance, a subsequent prioritization was applied using the following criteria: a minimum of 80% variant reads for potential homozygous and between 20 and 60% for compound heterozygous variants. For the analysis of candidate variants, variants from the single nucleotide polymorphism database (dbSNP) and with a higher frequency than 1

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2013-12-12
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