Eisfeldt J

A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease.

Ehn E, Eisfeldt J, Laffita-Mesa JM, ..., Nennesemo I, Graff C

Sci Rep 15 (1) 2912 [2025-01-23; online 2025-01-23]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing.

Eisfeldt J, Higginbotham EJ, Lenner F, ..., Scherer SW, Feuk L

Genome Res. 34 (11) 1763-1773 [2024-11-20; online 2024-11-20]

Bioinformatics Support for Computational Resources [Service] NGI Long read [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]

Transposable element insertions in 1000 Swedish individuals.

Bilgrav Saether K, Nilsson D, Thonberg H, ..., Eisfeldt J, Lindstrand A

PLoS ONE 18 (7) e0289346 [2023-07-28; online 2023-07-28]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]

Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier.

Eisfeldt J, Pettersson M, Petri A, ..., Feuk L, Lindstrand A

Hum. Genet. 140 (5) 775-790 [2021-05-00; online 2020-12-14]

Bioinformatics Support for Computational Resources [Service] NGI Long read [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service]

Cytogenetically visible inversions are formed by multiple molecular mechanisms.

Pettersson M, Grochowski CM, Wincent J, ..., Carvalho CMB, Lindstrand A

Hum. Mutat. 41 (11) 1979-1998 [2020-11-00; online 2020-10-01]

Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants.

Garcia M, Juhos S, Larsson M, ..., Käller M, Nystedt B

F1000Res 9 (-) 63 [2020-01-29; online 2020-01-29]

Bioinformatics (NBIS) [Technology development] Bioinformatics Long-term Support WABI [Technology development] Bioinformatics Support and Infrastructure [Technology development] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Technology development] Clinical Genomics [Collaborative] Clinical Genomics Stockholm [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

Discovery of Novel Sequences in 1,000 Swedish Genomes.

Eisfeldt J, Mårtensson G, Ameur A, Nilsson D, Lindstrand A

Mol. Biol. Evol. 37 (1) 18-30 [2020-01-01; online 2019-09-29]

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

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.

Nazaryan-Petersen L, Eisfeldt J, Pettersson M, ..., Tümer Z, Lindstrand A

PLoS Genet. 14 (11) e1007780 [2018-11-00; online 2018-11-12]

NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]