Ida Höijer
Senior research engineer at Department of Immunology, Genetics and Pathology; Facilities; Clinical Genomics Uppsala
- Telephone:
- +46 18 471 48 21
- Mobile phone:
- +46 73 469 79 13
- E-mail:
- ida.hoijer@igp.uu.se
- Visiting address:
- Dag Hammarskjölds väg 20
751 85 Uppsala - Postal address:
- Rudbecklaboratoriet
751 85 UPPSALA
Senior research engineer at Department of Immunology, Genetics and Pathology; Facilities; Uppsala Genome Center
- Mobile phone:
- +46 73 469 79 13
- Visiting address:
- BMC, Husargatan 3
75122 Uppsala - Postal address:
- Box 815
75108 Uppsala
More information is available to staff who log in.
Publications
Selection of publications
- De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data (2018)
- Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing (2018)
- Combination of short-read, long-read, and optical mapping assemblies reveals large-scale tandem repeat arrays with population genetic implications (2017)
- Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing (2015)
Recent publications
- Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR (2024)
- Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon (2024)
- A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities (2024)
- A novel quantitative targeted analysis of X-chromosome Inactivation (XCI) using Nanopore sequencing (2023)
- CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations (2022)
All publications
Articles
- Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR (2024)
- Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon (2024)
- A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities (2024)
- A novel quantitative targeted analysis of X-chromosome Inactivation (XCI) using Nanopore sequencing (2023)
- CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations (2022)
- Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity (2020)
- Xdrop (2020)
- Translating GWAS-identified loci for cardiac rhythm and rate using an in vivo image- and CRISPR/Cas9-based approach (2020)
- De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data (2018)
- Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing (2018)
- Combination of short-read, long-read, and optical mapping assemblies reveals large-scale tandem repeat arrays with population genetic implications (2017)
- Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing (2015)
- CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo
- Kita crispants for systematic image-based genetic screens of complex traits in zebrafish larvae
Books
Data sets
