Karlsson R

Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.

Grosche S, Marenholz I, Esparza-Gordillo J, ..., Xu C, Lee Y

Nat Commun 12 (1) 6618 [2021-11-16; online 2021-11-16]

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

Age-of-onset information helps identify 76 genetic variants associated with allergic disease.

Ferreira MAR, Vonk JM, Baurecht H, ..., Lee Y, Koppelman GH

PLoS Genet. 16 (6) e1008725 [2020-06-00; online 2020-06-30]

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

Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia.

Halvorsen M, Huh R, Oskolkov N, ..., Sullivan PF, Szatkiewicz JP

Nat Commun 11 (1) 1842 [2020-04-15; online 2020-04-15]

Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service] Systems Biology [Collaborative]

Associations of autozygosity with a broad range of human phenotypes.

Clark DW, Okada Y, Moore KHS, ..., Kubo M, Wilson JF

Nat Commun 10 (1) 4957 [2019-10-31; online 2019-10-31]

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

Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

Ferreira MA, Vonk JM, Baurecht H, ..., Koppelman GH, Paternoster L

Nat. Genet. 49 (12) 1752-1757 [2017-12-00; online 2017-10-30]

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

SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.

Ameur A, Dahlberg J, Olason P, ..., Magnusson PK, Gyllensten U

Eur. J. Hum. Genet. 25 (11) 1253-1260 [2017-11-00; online 2017-08-23]

Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support and Infrastructure [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service]