Fourteen instances of true-positive CNVs detected by NIPT-plus.

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Fourteen instances of true-positive CNVs detected by NIPT-plus.

创建时间：

2025-01-24

CNV and ROH analysis of patients with a region of triplication followed by a terminal region of ROH and their parental samples

拷贝数变异分析

纯合性分析

These samples include 4 patients with a triplication/ROH combination on: (1) chromosome 6, (2) chromosom 9, (3) chromosome 10, (4) chromosome 14 All arrays contain single hybridisations of either pati

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Array CGH analysis of human uveal melanomas. Array CGH analysis of human uveal melanomas

葡萄膜黑色素瘤基因

拷贝数变异分析

Primary uveal melanomas show multiple chromosomal aberrations. To identify genome variation in six human primary uveal melanomas, genome wide copy number variation (CNV) analyses were carried out in h

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Type 1 Diabetes Genetics Consortium (T1DGC): Copy Number Variant (CNV) Study

1型糖尿病遗传

拷贝数变异分析

Type 1 Diabetes Genetics Consortium (T1DGC) was formed to address issues of limited sample size and consistency of phenotyping that had limited genetic investigations on risk of type 1 diabetes (T1D).

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Additional file 3 of Copy number variation in human genomes from three major ethno-linguistic groups in Africa

拷贝数变异分析

群体基因组学

Additional file 3: Table S2. GenomeSTRiP CNVR that intersect cn.MOPS CNVR after QC.

Figshare2020-04-10 更新80

Table_13_Pan-Genomic Study of Mycobacterium tuberculosis Reflecting the Primary/Secondary Genes, Generality/Individuality, and the Interconversion Through Copy Number Variations.DOCX

分枝杆菌基因组与基因表达

拷贝数变异分析

Tuberculosis (TB) has surpassed HIV as the leading infectious disease killer worldwide since 2014. The main pathogen, Mycobacterium tuberculosis (Mtb), contains ~4,000 genes that account for ~90% of t

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Fourteen instances of true-positive CNVs detected by NIPT-plus.

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