Data · dataset · 2025
Third and first generation gene sequencing data of 2 infertile male patients in Guangxi Reproduction Hospital, China 2025.4.4
Listed in ScienceDB
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)。
Links
Where it is published
- DOI doi.org/10.57760/sciencedb.23220 ↗
DOI / persistent id · from scidb cn
Catalogue records · 1
- OAI-PMH record scidb.cn/oai?verb=GetRecord&metadataPrefix=oai_dc&identifier=10.57760%2… ↗
metadata API · from scidb cn
Topics
- From keywords
- Earth & Environmental Science · Engineering · Humanities · Life Sciences · Social Science
- Inferred from text
- Genetics 69% · Sequencing 75%
Provenance · 1 source records, 12 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| ScienceDB | 10.57760/sciencedb.23220 | 10 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].anzsrc:group:3105 | enrichment · scidb cn | taxonomy-embedding@1.0.0 | title+keywords+description (69%) |
| concepts[field].local:field:earth-environmental | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:engineering | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:humanities | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:social-science | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[modality].local:modality:sequencing | enrichment · scidb cn | keyword-concept-rules@1.0.0 | title+description (75%) |
| description | source · scidb cn | connector:scidb_cn@1.0.0 | /metadata/dc/description |
| license | source · scidb cn | connector:scidb_cn@1.0.0 | /metadata/dc/rights |
| publication_date | source · scidb cn | connector:scidb_cn@1.0.0 | |
| title | source · scidb cn | connector:scidb_cn@1.0.0 | /metadata/dc/title |