Structural variation detection

NIAID Data Ecosystem2026-03-12 收录

基因组结构变异检测

酵母拷贝数变异分析

数据链接：

https://www.ncbi.nlm.nih.gov/sra/DRP006441 数据链接链接失效反馈

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There are some tandem repeats in yeast genome. We artificially induced copy number variations and detected them by nanopore sequencing.

创建时间：

2020-08-26

Sniffles SV call set for HC1-N and HC1-T

基因组结构变异检测

生物信息学

PacBio CLR reads were mapped to the HC1-N genome using NGMLR under default settings. SV calling was performed using Sniffles with minimum support at 2 (-s) and minimum length at 30 (-l). We filtered t

NIAID Data Ecosystem70

Table_3_Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing.DOCX

遗传病基因诊断

基因组结构变异检测

Waardenburg syndrome (WS) is a group of autosomal-dominant hereditary conditions with a global incidence of 1/42,000. WS can be categorized into at least four types: WS1–4, and these are characterized

NIAID Data Ecosystem20

Affymetrix SNP and CNV data for the HuRef individual. Homo sapiens

基因组结构变异检测

拷贝数变异分析

The ideal genome sequence for medical interpretation is complete and diploid, capturing the full spectrum of genetic variation. Toward this end, there has been progress in discovery of single nucleoti

NIAID Data Ecosystem10

Fine-Scale Mapping and Sequencing of Structural Variation from Eight Human Genomes. Homo sapiens

基因组结构变异检测

基因组物理图谱构建

Genetic variation amongst individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single-nucleotide changes. In this manuscript we explore variation

NIAID Data Ecosystem40

Ruler Arrays Reveal Haploid Genomic Structural Variation

基因组结构变异检测

基因单倍型分析

Despite the known relevance of genomic structural variants to pathogen behavior, cancer, development, and evolution, certain repeat based structural variants may evade detection by existing high-throu

NIAID Data Ecosystem20

Structural variation detection

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