Anna Lindstrand

Karolinska Institutet

anna.lindstrand@ki.se

Keywords

Chromosome abnormality, clinical genetics, Clinical genomics, Functional studies, Genomic Medicine, Genomic structural variations, Rare diseases, whole genome sequencing

Key Publications

Kampe A, Blomqvist Picard O, Eisfeldt J, . . . Lindstrand A. Nat Biotechnol. “Moving beyond monogenic disorders in clinical healthcare” 2026;44(1):21-5.

Ek M, Kvarnung M, Ten Berk de Boer E, . . . Lindstrand A. “Long-read genome sequencing enhances diagnostics of pediatric neurological disorders” Genome Med. 2026;18(1):12.

Ekholm K, Augustinsson A, Sundstrom J, . . . Lindstrand A. “Implementing electronic informed consent in rare disease genomics” Sci Rep. 2025;15(1):44419.

Eisfeldt J, Ek M, Nordenskjold M, . . . Lindstrand A. “Toward clinical long-read genome sequencing for rare diseases” Nat Genet. 2025;

Eisfeldt J, Ameur A, Lenner F, . . . Lindstrand A. “A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities” Genome Res. 2024;34(11):1774-84.

Bilgrav Saether K, Eisfeldt J, Bengtsson JD, . . . Lindstrand A. “Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps” Genome Res. 2024;34(11):1785-97.

Tesi B, Boileau C, Boycott KM, . . . Lindstrand A. “Precision medicine in rare diseases: What is next?” J Intern Med. 2023;294(4):397-412.

Schuy J, Grochowski CM, Carvalho CMB, . . . Lindstrand A. “Complex genomic rearrangements: an underestimated cause of rare diseases” Trends Genet.2022;38(11):1134-46.

Lindstrand A, Ek M, Kvarnung M, . . . Nordgren A. “Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability” Genet Med. 2022;24(11):2296-307.

Eisfeldt J, Rezayee F, Pettersson M, . . . Lindstrand A. “Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation” Hum Mutat. 2022;43(11):1567-75.

Stranneheim H, Lagerstedt-Robinson K, Magnusson M, . . . Lindstrand A*, Wedell A*. “Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients” Genome Med. 2021;13(1):40. *Equal contribution

Lindstrand A, Eisfeldt J, Pettersson M, . . . Nilsson D. “From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability” Genome Med. 2019;11(1):68.

Eisfeldt J, Pettersson M, Vezzi F, . . . Lindstrand A. “Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements” PLoS Genet. 2019;15(2):e1007858.

Nazaryan-Petersen L, Eisfeldt J, Pettersson M, . . . Lindstrand A. “Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization” PLoS Genet. 2018;14(11):e1007780.

Pettersson M, Viljakainen H, Loid P, . . .Lindstrand A. “Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways” J Clin Endocrinol Metab. 2017;102(8):3029-39.

Nilsson D, Pettersson M, Gustavsson P, . . . Lindstrand A. “Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation” Hum Mutat. 2017;38(2):180-92.

Hofmeister W, Nilsson D, Topa A, . . . Lindstrand A. “CTNND2-a candidate gene for reading problems and mild intellectual disability” Journal of medical genetics. 2015;52(2):111-22.

Lindstrand A, Davis EE, Carvalho CM, . . . Katsanis N. “Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome” Am J Hum Genet. 2014;94(5):745-54.

SciLifeLab / Contact / Anna Lindstrand

Research Interests

Our research focuses on rare genetic diseases, combining clinical and molecular approaches to improve genetic diagnostics, refine genotype–phenotype correlations, and advance our understanding of disease biology. A central interest is structural genomic variation, how it forms and how it causes human disease. The group characterizes chromosomal rearrangements using a range of short- and long-read sequencing methodologies, with functional follow up in induced pluripotent stem cells. More recently, we have spearheaded efforts to introduce long-read genome sequencing and transcriptome analysis into clinical diagnostics to improve diagnostic yield. We are also driving computational development toward more comprehensive variant discovery, including improved calling across variant classes, as well as approaches based on de novo assemblies and graph genomes.