BMC Med Genomics

ISSN	1755-8794
ISSN-L	1755-8794
IUID	b2142ecf878b4708974cb8d76aa4155d
Modified	2020-11-27T13:14:06.888Z
Created	2017-05-09T09:12:34.493Z

Year 2020

PubMed DOI Crossref

Detection of leukemia gene fusions by targeted RNA-sequencing in routine diagnostics.

Engvall M, Cahill N, Jonsson BI, ..., Hallböök H, Cavelier L

BMC Med Genomics 13 (1) 106 [2020-07-29; online 2020-07-29]

Clinical Genomics Uppsala [Technology development]

PubMed DOI Crossref

Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants.

Klar J, Engstrand-Lilja H, Maqbool K, ..., Feuk L, Dahl N

BMC Med Genomics 13 (1) 85 [2020-06-26; online 2020-06-26]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Year 2019

PubMed DOI Crossref

Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family.

Lindholm Carlström E, Halvardson J, Etemadikhah M, ..., Gustavson KH, Feuk L

BMC Med Genomics 12 (1) 156 [2019-11-06; online 2019-11-06]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]

Year 2016

PubMed DOI Crossref

DNA methylation patterns associated with oxidative stress in an ageing population.

Hedman ÅK, Zilmer M, Sundström J, Lind L, Ingelsson E

BMC Med Genomics 9 (1) 72 [2016-11-25; online 2016-11-25]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells.

Morin A, Kwan T, Ge B, ..., Lathrop MG, Pastinen T

BMC Med Genomics 9 (1) 59 [2016-09-13; online 2016-09-13]

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

PubMed DOI Crossref

Longitudinal genome-wide methylation study of Roux-en-Y gastric bypass patients reveals novel CpG sites associated with essential hypertension.

Boström AE, Mwinyi J, Voisin S, ..., Zhang K, Schiöth HB

BMC Med Genomics 9 (-) 20 [2016-04-22; online 2016-04-22]

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

Year 2013

PubMed DOI Crossref

Integrated molecular portrait of non-small cell lung cancers.

Lazar V, Suo C, Orear C, ..., Hansson J, Pawitan Y

BMC Med Genomics 6 (-) 53 [2013-12-03; online 2013-12-03]

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

PubMed DOI Crossref

ChIP-seq in steatohepatitis and normal liver tissue identifies candidate disease mechanisms related to progression to cancer.

Bysani M, Wallerman O, Bornelöv S, ..., Komorowski J, Wadelius C

BMC Med Genomics 6 (-) 50 [2013-11-08; online 2013-11-08]

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

PubMed DOI Crossref

Transcriptome signatures in Helicobacter pylori-infected mucosa identifies acidic mammalian chitinase loss as a corpus atrophy marker.

Nookaew I, Thorell K, Worah K, ..., Nielsen J, Lundin SB

BMC Med Genomics 6 (-) 41 [2013-10-11; online 2013-10-11]

Bioinformatics Support and Infrastructure Bioinformatics Support, Infrastructure and Training

Year 2011

PubMed DOI Crossref

Genome wide association study identifies KCNMA1 contributing to human obesity.

Jiao H, Arner P, Hoffstedt J, ..., Clement K, Dahlman I

BMC Med Genomics 4 (-) 51 [2011-06-28; online 2011-06-28]

Bioinformatics and Expression Analysis (BEA) Mutation Analysis Facility (MAF) NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure