Karlsson EK

Integrating gene annotation with orthology inference at scale.

Kirilenko BM, Munegowda C, Osipova E, ..., Zoonomia Consortium‡ , Hiller M

Science 380 (6643) eabn3107 [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]

The functional and evolutionary impacts of human-specific deletions in conserved elements.

Xue JR, Mackay-Smith A, Mouri K, ..., Sabeti PC, Reilly SK

Science 380 (6643) eabn2253 [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]

Insights into mammalian TE diversity through the curation of 248 genome assemblies.

Osmanski AB, Paulat NS, Korstian J, ..., Lindblad-Toh K, Ray DA

Science 380 (6643) eabn1430 [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]

The contribution of historical processes to contemporary extinction risk in placental mammals.

Wilder AP, Supple MA, Subramanian A, ..., Ryder OA, Shapiro B

Science 380 (6643) eabn5856 [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 genomic timescale for placental mammal evolution.

Foley NM, Mason VC, Harris AJ, ..., Springer MS, Murphy WJ

Science 380 (6643) eabl8189 [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]

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]

Three-dimensional genome rewiring in loci with human accelerated regions.

Keough KC, Whalen S, Inoue F, ..., Pollen A, Pollard KS

Science 380 (6643) eabm1696 [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]

​Comparative genomics of Balto, a famous historic dog, captures lost diversity of 1920s sled dogs.

Moon KL, Huson HJ, Morrill K, ..., Karlsson EK, Shapiro B

Science 380 (6643) eabn5887 [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]

Relating enhancer genetic variation across mammals to complex phenotypes using machine learning.

Kaplow IM, Lawler AJ, Schäffer DE, ..., Meyer WK, Pfenning AR

Science 380 (6643) eabm7993 [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]

Mammalian evolution of human cis-regulatory elements and transcription factor binding sites.

Andrews G, Fan K, Pratt HE, ..., Moore JE, Weng Z

Science 380 (6643) eabn7930 [2023-04-28; online 2023-04-28]

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

Evolutionary constraint and innovation across hundreds of placental mammals.

Christmas MJ, Kaplow IM, Genereux DP, ..., Lindblad-Toh K, Karlsson EK

Science 380 (6643) eabn3943 [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]