Nordin J

Leveraging base-pair mammalian constraint to understand genetic variation and human disease.

Sullivan PF, Meadows JRS, Gazal S, ..., Karlsson EK, Lindblad-Toh K

Science 380 (6643) eabn2937 [2023-04-28; online 2023-04-28]

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

A novel canine reference genome resolves genomic architecture and uncovers transcript complexity.

Wang C, Wallerman O, Arendt ML, ..., Meadows JRS, Lindblad-Toh K

Commun Biol 4 (1) 185 [2021-02-10; online 2021-02-10]

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

Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort.

Mathioudaki A, Ljungström V, Melin M, ..., Sjöblom T, Lindblad-Toh K

Sci Rep 10 (1) 19304 [2020-11-09; online 2020-11-09]

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

SweHLA: the high confidence HLA typing bio-resource drawn from 1000 Swedish genomes.

Nordin J, Ameur A, Lindblad-Toh K, Gyllensten U, Meadows JRS

Eur. J. Hum. Genet. 28 (5) 627-635 [2020-05-00; online 2019-12-16]

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