affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling

The well-known Genome-Wide Association Studies (GWAS) had led to many scientific discoveries using SNP data. Even so, they were not able to explain the full heritability of complex diseases. Now, other structural variants like copy number variants or DNA inversions, either germ-line or in mosaicism...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	BMC bioinformatics 2015-05, Vol.16 (1), p.167-167, Article 167
Hauptverfasser:	Hernandez-Ferrer, Carles, Quintela Garcia, Ines, Danielski, Katharina, Carracedo, Ángel, Pérez-Jurado, Luis A, González, Juan R
Format:	Artikel
Sprache:	eng
Schlagworte:	Algorithms Chromosome Inversion - genetics DNA Copy Number Variations - genetics Genetic Association Studies Genoma humà Genome, Human Genome-Wide Association Study Humans In Situ Hybridization, Fluorescence Mosaicism Oligonucleotide Array Sequence Analysis - methods Oligonucleòtids Paraffin Embedding Polymorphism, Single Nucleotide - genetics Software
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!