Detection and analysis of copy number variation from 1000 Genomes trio data / 南方医科大学学报
Journal of Southern Medical University
;
(12): 777-782, 2015.
Article
Dans Chinois
| WPRIM
| ID: wpr-355284
ABSTRACT
Copy number variation (CNV) is an important type of genomic structural variation and plays a crucial role in genomic disorders imposed by diseases. Most of the current bioinformatic researches focus on developing algorithms and tools for detecting CNVs from single or paired datasets, but the analysis of such CNVs is not sufficient from a family-based genetic point of view. We performed a trio-sample family based parents-offspring CNV analysis using the 1000G data. We found a number of CNVs that the offsprings inherited from their parents and inferred through hierarchical analysis how they were generated. In addition, we also discovered several de novo CNV candidates.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Algorithmes
/
Biologie informatique
/
Génomique
/
Variations de nombre de copies de segment d'ADN
Type d'étude:
Etude diagnostique
Limites du sujet:
Humains
langue:
Chinois
Texte intégral:
Journal of Southern Medical University
Année:
2015
Type:
Article
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