Reimann E

An atlas of genetic determinants of forearm fracture.

Nethander M, Movérare-Skrtic S, Kämpe A, ..., Richards JB, Ohlsson C

Nat. Genet. 55 (11) 1820-1830 [2023-11-00; online 2023-11-02]

Clinical Genomics Gothenburg [Collaborative]

Whole genome and exome sequencing reference datasets from a multi-center and cross-platform benchmark study.

Zhao Y, Fang LT, Shen T, ..., Hong H, Xiao W

Sci Data 8 (1) 296 [2021-11-09; online 2021-11-09]

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

Toward best practice in cancer mutation detection with whole-genome and whole-exome sequencing.

Xiao W, Ren L, Chen Z, ..., Wang C, Shi L

Nat. Biotechnol. 39 (9) 1141-1150 [2021-09-00; online 2021-09-09]

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

Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing.

Fang LT, Zhu B, Zhao Y, ..., Xiao W, Somatic Mutation Working Group of Sequencing Quality Control Phase II Consortium

Nat. Biotechnol. 39 (9) 1151-1160 [2021-09-00; online 2021-09-09]

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