Peña-Perez L

Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency

Bruhn H, Naess K, Ygberg S, ..., Wedell A, Wredenberg A

Hum. Mutat. 2024 (-) 1-16 [2024-03-25; online 2024-03-25]

Clinical Genomics Stockholm [Service]

Linked-read whole-genome sequencing resolves common and private structural variants in multiple myeloma.

Peña-Pérez L, Frengen N, Hauenstein J, ..., Lindstrand A, Månsson R

Blood Adv 6 (17) 5009-5023 [2022-09-13; online 2022-06-09]

Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI Other [Service] NGI Short read [Service] NGI Stockholm (Genomics Applications) [Collaborative] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]