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.

Ingår i Human Mutation, s. 1262-1272, 2018

• DOI för 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.

Ingår i Genes, 2018

• DOI för 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.

Ingår i Genome Research, s. 697-708, 2017

• DOI för 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.

Ingår i BMC Cancer, 2015

• DOI för Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing
• Ladda ner fulltext (pdf) av Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing

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.

Ingår i Genome Research, s. 1774-1784, 2024

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

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.

Ingår i Genome Research, s. 2074-2080, 2024

• DOI för Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR
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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.

Ingår i Nature Genetics, s. 2287-2294, 2024

• DOI för 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.

Ingår i Scientific Reports, 2023

• DOI för A novel quantitative targeted analysis of X-chromosome Inactivation (XCI) using Nanopore sequencing
• Ladda ner fulltext (pdf) av 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.

Ingår i Nature Communications, 2022

• DOI för CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations
• Ladda ner fulltext (pdf) av CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations

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.

Ingår i Genome Research, s. 1774-1784, 2024

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

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.

Ingår i Genome Research, s. 2074-2080, 2024

• DOI för Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR
• Ladda ner fulltext (pdf) av Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR

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.

Ingår i Nature Genetics, s. 2287-2294, 2024

• DOI för 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.

Ingår i Scientific Reports, 2023

• DOI för A novel quantitative targeted analysis of X-chromosome Inactivation (XCI) using Nanopore sequencing
• Ladda ner fulltext (pdf) av 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.

Ingår i Nature Communications, 2022

• DOI för CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations
• Ladda ner fulltext (pdf) av CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations

Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity

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

Ingår i Genome Biology, 2020

• DOI för Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity
• Ladda ner fulltext (pdf) av Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity

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.

Ingår i Scientific Reports, 2020

• DOI för Translating GWAS-identified loci for cardiac rhythm and rate using an in vivo image- and CRISPR/Cas9-based approach
• Ladda ner fulltext (pdf) av Translating GWAS-identified loci for cardiac rhythm and rate using an in vivo image- and CRISPR/Cas9-based approach

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.

Ingår i Human Mutation, s. 1671-1679, 2020

• DOI för Xdrop: Targeted sequencing of long DNA molecules from low input samples using droplet sorting
• Ladda ner fulltext (pdf) av Xdrop: Targeted sequencing of long DNA molecules from low input samples using droplet sorting

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.

Ingår i Human Mutation, s. 1262-1272, 2018

• DOI för Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing
• Ladda ner fulltext (pdf) av 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.

Ingår i Genes, 2018

• DOI för De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data
• Ladda ner fulltext (pdf) av 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.

Ingår i Genome Research, s. 697-708, 2017

• DOI för 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.

Ingår i BMC Cancer, 2015

• DOI för Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing
• Ladda ner fulltext (pdf) av Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing

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

Höijer, Ida

2021

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

Höijer, Ida

2021

• Ladda ner fulltext (pdf) av Targeted Long-read Sequencing: Development and Applications in Medical Genetics

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.

Ingår i 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.