Genome Biol.

ISSN	1474-760X
ISSN-L	1474-7596
IUID	e4b3337e85bb4db3969b8dcf378b0cde
Modified	2020-11-27T13:14:03.883Z
Created	2017-05-09T09:12:32.141Z

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Kanoni S, Graham SE, Wang Y, ..., Assimes TL, Peloso GM

Genome Biol. 23 (1) 268 [2022-12-27; online 2022-12-27]

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

PubMed DOI Crossref

The SEQC2 epigenomics quality control (EpiQC) study.

Foox J, Nordlund J, Lalancette C, ..., Deng Y, Mason CE

Genome Biol. 22 (1) 332 [2021-12-06; online 2021-12-06]

Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]

PubMed DOI Crossref

Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging.

McCartney DL, Min JL, Richmond RC, ..., Horvath S, Marioni RE

Genome Biol. 22 (1) 194 [2021-06-29; online 2021-06-29]

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

PubMed DOI Crossref

Leveraging breeding programs and genomic data in Norway spruce (Picea abies L. Karst) for GWAS analysis.

Chen ZQ, Zan Y, Milesi P, ..., Lascoux M, Wu HX

Genome Biol. 22 (1) 179 [2021-06-13; online 2021-06-13]

Bioinformatics Compute and Storage [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

BUTTERFLY: addressing the pooled amplification paradox with unique molecular identifiers in single-cell RNA-seq.

Gustafsson J, Robinson J, Nielsen J, Pachter L

Genome Biol. 22 (1) 174 [2021-06-08; online 2021-06-08]

Bioinformatics Support, Infrastructure and Training [Collaborative] Systems Biology

PubMed DOI Crossref

Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions.

Gong B, Li D, Kusko R, ..., Jones W, Xu J

Genome Biol. 22 (1) 109 [2021-04-16; online 2021-04-16]

Clinical Genomics Stockholm [Collaborative]

PubMed DOI Crossref

Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity.

Höijer I, Johansson J, Gudmundsson S, ..., Gyllensten U, Ameur A

Genome Biol. 21 (1) 290 [2020-12-01; online 2020-12-01]

Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]

PubMed DOI Crossref

Removal of H2Aub1 by ubiquitin-specific proteases 12 and 13 is required for stable Polycomb-mediated gene repression in Arabidopsis.

Kralemann LEM, Liu S, Trejo-Arellano MS, ..., Köhler C, Hennig L

Genome Biol. 21 (1) 144 [2020-06-16; online 2020-06-16]

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

PubMed DOI Crossref

Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes.

Sakthikumar S, Roy A, Haseeb L, ..., Lindblad-Toh K, Forsberg-Nilsson K

Genome Biol. 21 (1) 127 [2020-06-09; online 2020-06-09]

Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Service] Bioinformatics Support, Infrastructure and Training [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

The bio.tools registry of software tools and data resources for the life sciences

Ison J, Ienasescu H, Chmura P, ..., Løngreen P, Brunak S

Genome Biol. 20 (1) 164 [2019-12-00; online 2019-08-12]

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

PubMed DOI Crossref

Whole genome DNA sequencing provides an atlas of somatic mutagenesis in healthy human cells and identifies a tumor-prone cell type

Franco I, Helgadottir HT, Moggio A, ..., Supek F, Eriksson M

Genome Biol. 20 (1) - [2019-12-00; online 2019-12-18]

Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

Epigenetic signatures associated with imprinted paternally expressed genes in the Arabidopsis endosperm

Moreno-Romero J, Del Toro-De León G, Yadav VK, Santos-González J, Köhler C

Genome Biol. 20 (1) - [2019-12-00; online 2019-02-21]

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

PubMed DOI Crossref

Conbase: a software for unsupervised discovery of clonal somatic mutations in single cells through read phasing

Hård J, Al Hakim E, Kindblom M, ..., Mold JE, Frisén J

Genome Biol. 20 (1) - [2019-12-00; online 2019-04-01]

Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

Genetic regulation of gene expression and splicing during a 10-year period of human aging.

Balliu B, Durrant M, Goede O, ..., Ingelsson E, Montgomery SB

Genome Biol. 20 (1) 230 [2019-11-04; online 2019-11-04]

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

PubMed DOI Crossref

A major locus controls local adaptation and adaptive life history variation in a perennial plant

Wang J, Ding J, Tan B, ..., Street NR, Ingvarsson PK

Genome Biol. 19 (1) - [2018-12-00; online 2018-06-04]

Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

Correspondence on Lovell et al.: identification of chicken genes previously assumed to be evolutionarily lost

Bornelöv S, Seroussi E, Yosefi S, ..., Friedman-Einat M, Andersson L

Genome Biol. 18 (1) - [2017-12-00; online 2017-06-14]

Bioinformatics Compute and Storage [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

Multiplexed, targeted profiling of single-cell proteomes and transcriptomes in a single reaction.

Genshaft AS, Li S, Gallant CJ, ..., Landegren U, Shalek AK

Genome Biol. 17 (1) 188 [2016-09-19; online 2016-09-19]

Affinity Proteomics Uppsala [Technology development] PLA and Single Cell Proteomics [Technology development]

PubMed DOI Crossref

Metagenome-assembled genomes uncover a global brackish microbiome.

Hugerth LW, Larsson J, Alneberg J, ..., Pinhassi J, Andersson AF

Genome Biol. 16 (-) 279 [2015-12-14; online 2015-12-14]

NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure

PubMed DOI Crossref

Standing genetic variation as a major contributor to adaptation in the Virginia chicken lines selection experiment.

Sheng Z, Pettersson ME, Honaker CF, Siegel PB, Carlborg Ö

Genome Biol. 16 (-) 219 [2015-10-01; online 2015-10-01]

NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure

PubMed DOI Crossref

Genome-wide mapping of promoter-anchored interactions with close to single-enhancer resolution.

Sahlén P, Abdullayev I, Ramsköld D, ..., Lundeberg J, Sandberg R

Genome Biol. 16 (-) 156 [2015-08-03; online 2015-08-03]

NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure

PubMed DOI Crossref

Site-specific programming of the host epithelial transcriptome by the gut microbiota.

Sommer F, Nookaew I, Sommer N, Fogelstrand P, Bäckhed F

Genome Biol. 16 (-) 62 [2015-03-28; online 2015-03-28]

Array and Analysis Facility Bioinformatics Support and Infrastructure Bioinformatics Support, Infrastructure and Training

PubMed DOI Crossref

Mapping-by-sequencing accelerates forward genetics in barley.

Mascher M, Jost M, Kuon JE, ..., Graner A, Stein N

Genome Biol. 15 (6) R78 [2014-06-10; online 2014-06-10]

NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure

PubMed DOI Crossref

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Brownstein CA, Beggs AH, Homer N, ..., Kohane IS, Margulies DM

Genome Biol. 15 (3) R53 [2014-03-25; online 2014-03-25]

Bioinformatics Support and Infrastructure Bioinformatics Support, Infrastructure and Training NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure

PubMed DOI Crossref

Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B.

Karlsson EK, Sigurdsson S, Ivansson E, ..., Breen M, Lindblad-Toh K

Genome Biol. 14 (12) R132 [2013-12-12; online 2013-12-12]

NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure

PubMed DOI Crossref

Single-cell genomics reveal low recombination frequencies in freshwater bacteria of the SAR11 clade.

Zaremba-Niedzwiedzka K, Viklund J, Zhao W, ..., Stepanauskas R, Andersson SG

Genome Biol. 14 (11) R130 [2013-11-28; online 2013-11-28]

NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure

PubMed DOI Crossref

Genome-wide signatures of differential DNA methylation in pediatric acute lymphoblastic leukemia.

Nordlund J, Bäcklin CL, Wahlberg P, ..., Lönnerholm G, Syvänen AC

Genome Biol. 14 (9) r105 [2013-09-24; online 2013-09-24]

NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure

PubMed DOI Crossref

Patchwork: allele-specific copy number analysis of whole-genome sequenced tumor tissue.

Mayrhofer M, DiLorenzo S, Isaksson A

Genome Biol. 14 (3) R24 [2013-03-25; online 2013-03-25]

Array and Analysis Facility

PubMed DOI Crossref

Allele-specific copy number analysis of tumor samples with aneuploidy and tumor heterogeneity.

Rasmussen M, Sundström M, Göransson Kultima H, ..., Glimelius B, Isaksson A

Genome Biol. 12 (10) R108 [2011-10-24; online 2011-10-24]

Array and Analysis Facility

PubMed DOI Crossref

Identification of novel exons and transcribed regions by chimpanzee transcriptome sequencing.

Wetterbom A, Ameur A, Feuk L, Gyllensten U, Cavelier L

Genome Biol. 11 (7) R78 [2010-07-23; online 2010-07-23]

NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

PubMed DOI Crossref

Global and unbiased detection of splice junctions from RNA-seq data.

Ameur A, Wetterbom A, Feuk L, Gyllensten U

Genome Biol. 11 (3) R34 [2010-03-17; online 2010-03-17]

NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

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