Anna Lindstrand

AMYCNE: Confident copy number assessment using whole genome sequencing data

Jesper Eisfeldt, Daniel Nilsson, Johanna C Andersson-Assarsson, 2018, PloS one.

Loqusdb: added value of an observations database of local genomic variation

Jesper Eisfeldt, Daniel Nilsson, Anna Lindstrand, 2020, BMC Bioinformatics.

Whole‐Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

Daniel Nilsson, Anna Lindstrand, Francesco Vezzi, 2017, Human mutation.

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Anna Lindstrand, Michael J Parker, Avni Santani, 2015, American journal of human genetics.

TIDDIT, an efficient and comprehensive structural variant caller

Jesper Eisfeldt, Daniel Nilsson, Anna Lindstrand, 2017 .