SciLifeLab Infrastructure Units Publications

Publications

The 10 most recent publications

Improving lithium dose prediction using population pharmacokinetics and pharmacogenomics: a cohort genome-wide association study in Sweden

Millischer V, Matheson GJ, Bergen SE, ..., Lavebratt C, Schalling M

The Lancet Psychiatry 9 (6) 447-457 [2022-06-00; online 2022-06-00]

NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss.

Trpchevska N, Freidin MB, Broer L, ..., Williams FMK, Nagtegaal AP

Am. J. Hum. Genet. - (-) - [2022-05-12; online 2022-05-12]

NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

Anti-citrullinated protein antibody specificities and pulmonary fibrosis in relation to genetic loci in early rheumatoid arthritis.

Brink M, Ljung L, Hansson M, ..., Klareskog L, Rantapää-Dahlqvist S

Rheumatology (Oxford) - (-) - [2022-05-09; online 2022-05-09]

NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

DOI Crossref

Combined Transcriptomic and Protein Array Cytokine Profiling of Human Stem Cells from Dental Apical Papilla Modulated by Oral Bacteria

Zymovets V, Razghonova Y, Rakhimova O, ..., Landström M, Romani Vestman N

Int J Mol Sci 23 (9) 5098 [2022-05-03; online 2022-05-03]

Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative]

PubMed DOI Crossref

A starch- and sucrose-reduced dietary intervention in irritable bowel syndrome patients produced a shift in gut microbiota composition along with changes in phylum, genus, and amplicon sequence variant abundances, without affecting the micro-RNA levels.

Nilholm C, Manoharan L, Roth B, D'Amato M, Ohlsson B

United European Gastroenterol J - (-) - [2022-04-28; online 2022-04-28]

Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative]

PubMed DOI Crossref

Findzx: an automated pipeline for detecting and visualising sex chromosomes using whole-genome sequencing data.

Sigeman H, Sinclair B, Hansson B

BMC Genomics 23 (1) 328 [2022-04-27; online 2022-04-27]

Bioinformatics Long-term Support WABI [Service] Bioinformatics Support, Infrastructure and Training [Service]

PubMed DOI Crossref

Identification of four novel T cell autoantigens and personal autoreactive profiles in multiple sclerosis.

Bronge M, Högelin KA, Thomas OG, ..., Olsson T, Grönlund H

Sci Adv 8 (17) eabn1823 [2022-04-29; online 2022-04-27]

Autoimmunity and Serology Profiling [Collaborative]

PubMed DOI Crossref

Auxilin is a novel susceptibility gene for congenital heart block which directly impacts fetal heart function.

Meisgen S, Hedlund M, Ambrosi A, ..., Sonesson SE, Wahren-Herlenius M

Ann. Rheum. Dis. - (-) - [2022-04-25; online 2022-04-25]

NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

Cell-lineage controlled epigenetic regulation in glioblastoma stem cells determines functionally distinct subgroups and predicts patient survival.

Lu X, Maturi NP, Jarvius M, ..., Uhrbom L, Chen X

Nat Commun 13 (1) 2236 [2022-04-25; online 2022-04-25]

NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

DOI Crossref

<i>Scipion-ED</i>: a graphical user interface for batch processing and analysis of 3D ED/MicroED data

Bengtsson VEG, Pacoste L, de la Rosa-Trevin JM, ..., Zou X, Xu H

J Appl Cryst J Appl Crystallogr 55 (3) - [2022-06-01; online 2022-04-22]

Cryo-EM [Technology development]