Discovery of large genomic inversions using long range information.

Marzieh Eslami RasekhGiorgia ChiatanteMattia MiroballoJoyce TangMario VenturaChris T AmemiyaEvan E EichlerFrancesca AntonacciCan Alkan

Published in: BMC genomics (2017)

In this paper, we show that VALOR is able to accurately discover all previously identified and experimentally validated large inversions in the same genome with a low false discovery rate. Using VALOR, we also predicted a novel inversion, which we validated using fluorescent in situ hybridization. VALOR is available at https://github.com/BilkentCompGen/VALOR.

Keyphrases

small molecule
high throughput
magnetic resonance imaging
computed tomography
gene expression
contrast enhanced
social media