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Validation of genomic structural variation predictions in fruit flies

ABSTRACT: Whole-genome tiling arrays were used to validate deletions and tandem duplications that were inferred based on next-generation sequencing data. The arrays were generated for six samples of the Drosophila melanogaster Genetic Reference Panel (DGRP) as well as the Berkeley reference strain. Structural variations (SVs) were assessed by comparing probe intensities within the region of interest between the sample for which the SV was predicted and the reference strain.

ORGANISM(S): Drosophila melanogaster

SUBMITTER: Charles Girardot

PROVIDER: E-MTAB-1105 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Impact of genomic structural variation in Drosophila melanogaster based on population-scale sequencing.

Zichner Thomas T Garfield David A DA Rausch Tobias T Stütz Adrian M AM Cannavó Enrico E Braun Martina M Furlong Eileen E M EE Korbel Jan O JO

Genome research 20121206 3

Genomic structural variation (SV) is a major determinant for phenotypic variation. Although it has been extensively studied in humans, the nucleotide resolution structure of SVs within the widely used model organism Drosophila remains unknown. We report a highly accurate, densely validated map of unbalanced SVs comprising 8962 deletions and 916 tandem duplications in 39 lines derived from short-read DNA sequencing in a natural population (the "Drosophila melanogaster Genetic Reference Panel," DG ...[more]

PMID: 23222910

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