Några exempel på vetenskapliga publikationer baserade på NGS data framtagna på UGC


Ameur, A., et al., Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids. Am J Hum Genet, 2012.

Bizuayehu, T.T., et al., Differential expression patterns of conserved miRNAs and isomiRs during Atlantic halibut development. BMC Genomics, 2012. 13: p. 11.

Edlund, K., et al., Data-driven unbiased curation of the TP53 mutation database and validation by ultra- deep sequencing of human tumors. PNAS (in press), 2012.

Kindgren, P., et al., The plastid redox insensitive 2 mutant of Arabidopsis is impaired in PEP activity and high light-dependent plastid redox signalling to the nucleus. Plant J, 2012. 70(2): p. 279-91.

Mansouri, L., et al., Next generation RNA-sequencing in prognostic subsets of chronic lymphocytic leukemia. Am J Hematol (in press), 2012.

Sällman-Almén, M., et al., Determination of the obesity-associated gene variants within the entire FTO gene by ultra-deep targeted sequencing in obese and lean children. Int J Obesity, 2012.

Zaboli, G., et al., Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits. Eur J Hum Genet, 2012. 20(1): p. 77-83.



Ameur, A., et al., Ultra-deep sequencing of mouse mitochondrial DNA: mutational patterns and their origins. PLoS Genet, 2011. 7(3): p. e1002028.

Ameur, A., et al., Total RNA sequencing reveals nascent transcription and widespread cotranscriptional splicing in the human brain. Nat Struct Mol Biol, 2011. 18(12): p. 1435-40.

Dorshorst, B., et al., A complex genomic rearrangement involving the endothelin 3 locus causes dermal hyperpigmentation in the chicken. PLoS Genet, 2011. 7(12): p. e1002412.

Jiao, X., et al., Structural alterations from multiple displacement amplification of a human genome revealed by mate-pair sequencing. PLoS One, 2011. 6(7): p. e22250.

Johansson, H., et al., Targeted resequencing of candidate genes using selector probes. Nucleic Acids Res, 2011. 39(2): p. e8.



Ameur, A., et al., Global and unbiased detection of splice junctions from RNA-seq data. Genome Biol, 2010. 11(3): p. R34.

Klevebring, D., et al., Analysis of transcript and protein overlap in a human osteosarcoma cell line. BMC Genomics, 2010. 11: p. 684.

Marklund, S. and O. Carlborg, SNP detection and prediction of variability between chicken lines using genome resequencing of DNA pools. BMC Genomics, 2010. 11: p. 665.

Rubin, C.J., et al., Whole-genome resequencing reveals loci under selection during chicken domestication. Nature, 2010. 464(7288): p. 587-91.

Wetterbom, A., et al., Identification of novel exons and transcribed regions by chimpanzee transcriptome sequencing. Genome Biol, 2010. 11(7): p. R78.


Markljung, E., et al., ZBED6, a novel transcription factor derived from a domesticated DNA transposon regulates IGF2 expression and muscle growth. PLoS Biol, 2009. 7(12): p. e1000256.

Motallebipour, M., et al., Differential binding and co-binding pattern of FOXA1 and FOXA3 and their relation to H3K4me3 in HepG2 cells revealed by ChIP-seq. Genome Biol, 2009. 10(11): p. R129.


Image: Ignas Bunikis

Design: Olga Vinnere Pettersson

(The original design of the DNA-spiral - Gwen Fischer)