Ida Höijer

Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing

Höijer, Ida; Tsai, Yu-Chih; Clark, Tyson A.; Kotturi, Paul et al.

Part of Human Mutation, p. 1262-1272, 2018

• DOI for Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing
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De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data

Ameur, Adam; Che, Huiwen; Martin, Marcel; Bunikis, Ignas et al.

Part of Genes, 2018

• DOI for De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data
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Combination of short-read, long-read, and optical mapping assemblies reveals large-scale tandem repeat arrays with population genetic implications

Weissensteiner, Matthias H.; Pang, Andy W. C.; Bunikis, Ignas; Höijer, Ida et al.

Part of Genome Research, p. 697-708, 2017

• DOI for Combination of short-read, long-read, and optical mapping assemblies reveals large-scale tandem repeat arrays with population genetic implications

Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing

Cavelier, Lucia; Ameur, Adam; Häggqvist, Susana; Höijer, Ida et al.

Part of BMC Cancer, 2015

• DOI for Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing
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Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR

De Coster, Wouter; Höijer, Ida; Bruggeman, Inge; D'Hert, Svenn et al.

Part of Genome Research, p. 2074-2080, 2024

• DOI for Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR
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A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities

Eisfeldt, Jesper; Ameur, Adam; Lenner, Felix; Ten Berk de Boer, Esmee et al.

Part of Genome Research, p. 1774-1784, 2024

• DOI for A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Delgado-Vega, Angelica Maria; Höijer, Ida; Corcoran, Pádraic; Lysenkova, Mariya et al.

Part of Nature Genetics, p. 2287-2294, 2024

• DOI for Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

A novel quantitative targeted analysis of X-chromosome Inactivation (XCI) using Nanopore sequencing

Johansson, Josefin; Lidéus, Sarah; Höijer, Ida; Ameur, Adam et al.

Part of Scientific Reports, 2023

• DOI for A novel quantitative targeted analysis of X-chromosome Inactivation (XCI) using Nanopore sequencing
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CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations

Höijer, Ida; Emmanouilidou, Anastasia; Östlund, Rebecka; van Schendel, Robin et al.

Part of Nature Communications, 2022

• DOI for CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations
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Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR

De Coster, Wouter; Höijer, Ida; Bruggeman, Inge; D'Hert, Svenn et al.

Part of Genome Research, p. 2074-2080, 2024

• DOI for Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR
• Download full text (pdf) of Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities

Eisfeldt, Jesper; Ameur, Adam; Lenner, Felix; Ten Berk de Boer, Esmee et al.

Part of Genome Research, p. 1774-1784, 2024

• DOI for A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Delgado-Vega, Angelica Maria; Höijer, Ida; Corcoran, Pádraic; Lysenkova, Mariya et al.

Part of Nature Genetics, p. 2287-2294, 2024

• DOI for Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

A novel quantitative targeted analysis of X-chromosome Inactivation (XCI) using Nanopore sequencing

Johansson, Josefin; Lidéus, Sarah; Höijer, Ida; Ameur, Adam et al.

Part of Scientific Reports, 2023

• DOI for A novel quantitative targeted analysis of X-chromosome Inactivation (XCI) using Nanopore sequencing
• Download full text (pdf) of A novel quantitative targeted analysis of X-chromosome Inactivation (XCI) using Nanopore sequencing

CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations

Höijer, Ida; Emmanouilidou, Anastasia; Östlund, Rebecka; van Schendel, Robin et al.

Part of Nature Communications, 2022

• DOI for CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations
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Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity

Höijer, Ida; Johansson, Josefin; Gudmundsson, Sanna; Chin, Chen-Shan et al.

Part of Genome Biology, 2020

• DOI for Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity
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Translating GWAS-identified loci for cardiac rhythm and rate using an in vivo image- and CRISPR/Cas9-based approach

von der Heyde, Benedikt; Emmanouilidou, Anastasia; Mazzaferro, Eugenia; Vicenzi, Silvia et al.

Part of Scientific Reports, 2020

• DOI for Translating GWAS-identified loci for cardiac rhythm and rate using an in vivo image- and CRISPR/Cas9-based approach
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Xdrop: Targeted sequencing of long DNA molecules from low input samples using droplet sorting

Madsen, Esben B; Höijer, Ida; Kvist, Thomas; Ameur, Adam et al.

Part of Human Mutation, p. 1671-1679, 2020

• DOI for Xdrop: Targeted sequencing of long DNA molecules from low input samples using droplet sorting
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Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing

Höijer, Ida; Tsai, Yu-Chih; Clark, Tyson A.; Kotturi, Paul et al.

Part of Human Mutation, p. 1262-1272, 2018

• DOI for Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing
• Download full text (pdf) of Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing

De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data

Ameur, Adam; Che, Huiwen; Martin, Marcel; Bunikis, Ignas et al.

Part of Genes, 2018

• DOI for De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data
• Download full text (pdf) of De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data

Combination of short-read, long-read, and optical mapping assemblies reveals large-scale tandem repeat arrays with population genetic implications

Weissensteiner, Matthias H.; Pang, Andy W. C.; Bunikis, Ignas; Höijer, Ida et al.

Part of Genome Research, p. 697-708, 2017

• DOI for Combination of short-read, long-read, and optical mapping assemblies reveals large-scale tandem repeat arrays with population genetic implications

Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing

Cavelier, Lucia; Ameur, Adam; Häggqvist, Susana; Höijer, Ida et al.

Part of BMC Cancer, 2015

• DOI for Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing
• Download full text (pdf) of Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing

Targeted Long-read Sequencing: Development and Applications in Medical Genetics

Höijer, Ida

2021

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SUPPLEMENTARY INFORMATION for CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo

Höijer, Ida

2021

CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo

Höijer, Ida; Emmanouilidou, Anastasia; Östlund, Rebecka; van Schendel, Robin et al.

Part of SUPPLEMENTARY INFORMATION for 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

Mazzaferro, Eugenia; Metzendorf, Christoph; Zhang, Hanqing; Mujica, Endrina et al.