Forsberg-Nilsson K

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]

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