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Data · dataset · 2025

Third and first generation gene sequencing data of 2 infertile male patients in Guangxi Reproduction Hospital, China 2025.4.4

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Description

用于男性不育病例中新型 α-珠蛋白缺失的整合第三代和 Sanger 测序数据主要数据:PacBio HiFi 长读长测序文件 (BAM/VCF)验证数据:Sanger 测序轨迹(AB1 文件)和 Gap-PCR 元数据描述:该数据集结合了 TGS 发现和 Sanger 验证数据,用于在不育男性中鉴定的两种新型 α-珠蛋白簇缺失:案例 1 (39 岁,继发性不孕症):TGS:跨越 HBA1/HBA2 的 8.498 kb 缺失 (GRCh38:chr16:175,159–183,657)(图 1A1)。Sanger:通过引物 F:5'-CAGGCTGTGGGCAGAGTCA-3'/R:5'-GCACACAAAACGTGCCGT-3' (295 bp 产物;图 1B1-C1)。病例 2 (35 岁,无精子症):TGS:21.453 kb 缺失 (chr16:164,004–185,457) 影响 HBM/HBA2/HBA1/HBQ1(图 1A2)。Sanger:引物 F:5'-GGTTCTGACAAGCAGAGGGTGAAA-3'/R:5'-GCCTCTCTACCGTGCAGGGACA-3'(180 bp 产物;图 1B2-C2)。

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Inferred from text
Genetics 69% · Sequencing 75%
Provenance · 1 source records, 12 field assertions
SourceKeyLast seenRaw
ScienceDB10.57760/sciencedb.2322010 d agoJSON v1
FieldAssertionExtractorEvidence
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concepts[modality].local:modality:sequencingenrichment · scidb cnkeyword-concept-rules@1.0.0title+description (75%)
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