All Stories

  1. Structural variant calling using Sniffles2

    Article • Nature Protocols, June 2026, Springer Science + Business Media

    Fritz Sedlazeck

  2. A complete human pancreatic cancer genome

    Article • May 2026, openRxiv

    Fritz Sedlazeck

  3. Rapid phylogenomic analysis for viral surveillance and metagenomic profiling with Omni2Tree

    Article • May 2026, openRxiv

    Fritz Sedlazeck

  4. Global impact of germline structural variation on the cancer proteome

    Article • Nature Communications, April 2026, Springer Science + Business Media

    Fritz Sedlazeck

  5. Population-scale interpretation of RNA isoform diversity enabled by Isopedia

    Article • March 2026, openRxiv

    Fritz Sedlazeck

  6. Comprehensive detection of genetic and epigenetic alterations in cancer using long reads with TumorLens

    Article • March 2026, openRxiv

    Fritz Sedlazeck

  7. A systematic assessment of machine learning for structural variant filtering

    Article • January 2026, openRxiv

    Fritz Sedlazeck

  8. VACmap: an accurate long-read aligner for unraveling complex genomic rearrangements

    Article • Nature Communications, January 2026, Springer Science + Business Media

    Fritz Sedlazeck

  9. Clair3-RNA: a deep learning-based small variant caller for long-read RNA sequencing data

    Article • Nature Communications, December 2025, Springer Science + Business Media

    Fritz Sedlazeck

  10. MosaicSim: A Novel Mosaic Variant Simulator Reveals Diminishing Returns of Ultra-High Coverage for Mosaic Variant Detection

    Article • December 2025, openRxiv

    Fritz Sedlazeck

  11. Benchmark for simple and complex genome inversions

    Article • December 2025, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  12. Sixth Annual BCM Hackathon on Structural Variation and Pangenomics

    Article • F1000Research, November 2025, Faculty of 1000, Ltd.

    Fritz Sedlazeck

  13. Correction: Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair

    Article • Scientific Data, August 2025, Springer Science + Business Media

    Fritz Sedlazeck

  14. Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair

    Article • Scientific Data, July 2025, Springer Science + Business Media

    Fritz Sedlazeck

  15. Reply to: Is Gauchian genotyping of GBA1 variants reliable?

    Article • Communications Biology, May 2025, Springer Science + Business Media

    Fritz Sedlazeck

  16. K-mer analysis of long-read alignment pileups for structural variant genotyping

    Article • Nature Communications, April 2025, Springer Science + Business Media

    Fritz Sedlazeck

  17. A Hitchhiker's Guide to long-read genomic analysis

    Article • Genome Research, April 2025, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  18. Computational analysis of DNA methylation from long-read sequencing

    Article • Nature Reviews Genetics, March 2025, Springer Science + Business Media

    Fritz Sedlazeck

  19. Unraveling the hidden complexity of cancer through long-read sequencing

    Article • Genome Research, March 2025, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  20. Closing the gaps, and improving somatic structural variant analysis and benchmarking using CHM13-T2T

    Article • Genome Research, March 2025, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  21. VACmap: An Accurate Long-Read Aligner for Unraveling Complex Genomic Rearrangements

    Article • February 2025, Springer Science + Business Media

    Fritz Sedlazeck

  22. Clair3-RNA: A deep learning-based small variant caller for long-read RNA sequencing data

    Article • November 2024, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  23. K-mer analysis of long-read alignment pileups for structural variant genotyping

    Article • October 2024, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  24. StratoMod: predicting sequencing and variant calling errors with interpretable machine learning

    Article • Communications Biology, October 2024, Springer Science + Business Media

    Fritz Sedlazeck

  25. Single-cell somatic copy number variants in brain using different amplification methods and reference genomes

    Article • Communications Biology, October 2024, Springer Science + Business Media

    Fritz Sedlazeck

  26. STIX: Long-reads based Accurate Structural Variation Annotation at Population Scale

    Article • October 2024, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  27. Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair for somatic benchmarks

    Article • September 2024, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  28. The fifth international hackathon for developing computational cloud-based tools and resources for pan-structural variation and genomics

    Article • F1000Research, June 2024, Faculty of 1000, Ltd.

    Fritz Sedlazeck

  29. MethPhaser: methylation-based long-read haplotype phasing of human genomes

    Article • Nature Communications, June 2024, Springer Science + Business Media

    Fritz Sedlazeck

  30. De novo genome assembly for the coppery titi monkey (Plecturocebus cupreus) – an emerging non-human primate model for behavioral research

    Article • Genome Biology and Evolution, May 2024, Oxford University Press (OUP)

    Fritz Sedlazeck

  31. Unveiling microbial diversity: harnessing long-read sequencing technology

    Article • Nature Chemical Biology, April 2024, Springer Science + Business Media

    Fritz Sedlazeck

  32. The benefit of a complete reference genome for cancer structural variant analysis

    Article • March 2024, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  33. Improved sequence mapping using a complete reference genome and lift-over

    Article • Nature Chemical Biology, November 2023, Springer Science + Business Media

    Fritz Sedlazeck

  34. Sniffles2 methods v1

    Article • September 2023, Springer Science + Business Media

    Fritz Sedlazeck

  35. Single-cell somatic copy number variants in brain using different amplification methods and reference genomes

    Article • August 2023, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  36. VACmap: An Accurate Long-Read Aligner for Unraveling Complex Genomic Rearrangements

    Article • August 2023, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  37. Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes

    Article • Nature Chemical Biology, June 2023, Springer Science + Business Media

    Fritz Sedlazeck

  38. MethPhaser: methylation-based haplotype phasing of human genomes

    Article • May 2023, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  39. Inference of phylogenetic trees directly from raw sequencing reads using Read2Tree

    Article • Nature Biotechnology, April 2023, Springer Science + Business Media

    Fritz Sedlazeck, Dr Christophe Dessimoz

  40. Variant calling and benchmarking in an era of complete human genome sequences

    Article • Nature Reviews Genetics, April 2023, Springer Science + Business Media

    Fritz Sedlazeck

  41. Impact and characterization of serial structural variations across humans and great apes

    Article • March 2023, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  42. Multiscale Analysis of Pangenome Enables Improved Representation of Genomic Diversity For Repetitive And Clinical Relevant Genes

    Article • August 2022, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  43. Fixing reference errors efficiently improves sequencing results

    Article • July 2022, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  44. Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson’s disease-associated GBA gene

    Article • Communications Biology, July 2022, Springer Science + Business Media

    Fritz Sedlazeck

  45. A pan-genome approach to decipher variants in the highly complex tandem repeat of LPA

    Article • June 2022, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  46. Author Correction: Searching thousands of genomes to classify somatic and novel structural variants using STIX

    Article • Nature Chemical Biology, May 2022, Springer Science + Business Media

    Fritz Sedlazeck

  47. The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms

    Article • F1000Research, May 2022, Faculty of 1000, Ltd.

    Fritz Sedlazeck, Dr suresh kumar mendem

  48. Improved sequence mapping using a complete reference genome and lift-over

    Article • April 2022, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  49. Read2Tree: scalable and accurate phylogenetic trees from raw reads

    Article • April 2022, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck, Dr Christophe Dessimoz

  50. Searching thousands of genomes to classify somatic and novel structural variants using STIX

    Article • Nature Chemical Biology, April 2022, Springer Science + Business Media

    Fritz Sedlazeck

  51. A complete reference genome improves analysis of human genetic variation

    Article • Science, April 2022, American Association for the Advancement of Science

    Fritz Sedlazeck

  52. Rescuing low frequency variants within intra-host viral populations directly from Oxford Nanopore sequencing data

    Article • Nature Communications, March 2022, Springer Science + Business Media

    Fritz Sedlazeck

  53. Truvari: Refined Structural Variant Comparison Preserves Allelic Diversity

    Article • February 2022, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  54. Accurate profiling of forensic autosomal STRs using the Oxford Nanopore Technologies MinION device

    Article • Forensic Science International Genetics, January 2022, Elsevier

    Fritz Sedlazeck

  55. Construction of a new chromosome-scale, long-read reference genome assembly for the Syrian hamster, Mesocricetus auratus

    Article • GigaScience, January 2022, Oxford University Press (OUP)

    Fritz Sedlazeck

  56. Hidden biases in germline structural variant detection

    Article • December 2021, Springer Science + Business Media

    Fritz Sedlazeck

  57. Comprehensive analysis of GBA using a novel algorithm for Illumina whole-genome sequence data or targeted Nanopore sequencing

    Article • November 2021, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  58. Investigation of product-derived lymphoma following infusion of piggyBac-modified CD19 chimeric antigen receptor T cells

    Article • Blood, October 2021, American Society of Hematology

    Fritz Sedlazeck

  59. Author Correction: Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study

    Article • Nature Biotechnology, October 2021, Springer Science + Business Media

    Fritz Sedlazeck

  60. High resolution copy number inference in cancer using short-molecule nanopore sequencing

    Article • Nucleic Acids Research, September 2021, Oxford University Press (OUP)

    Fritz Sedlazeck

  61. PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation

    Article • September 2021, Springer Science + Business Media

    Fritz Sedlazeck

  62. Rescuing Low Frequency Variants within Intra-Host Viral Populations directly from Oxford Nanopore sequencing data

    Article • September 2021, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  63. An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates

    Article • F1000Research, September 2021, Faculty of 1000, Ltd.

    Fritz Sedlazeck

  64. Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment

    Article • GigaScience, September 2021, Oxford University Press (OUP)

    Fritz Sedlazeck

  65. Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study

    Article • Nature Biotechnology, September 2021, Springer Science + Business Media

    Fritz Sedlazeck

  66. Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals

    Article • PLOS One, August 2021, PLOS

    Fritz Sedlazeck

  67. A strategy for building and using a human reference pangenome

    Article • F1000Research, July 2021, Faculty of 1000, Ltd.

    Fritz Sedlazeck

  68. Fully resolved assembly of Cryptosporidium parvum

    Article • July 2021, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  69. Construction of a new chromosome-scale, long-read reference genome assembly for the Syrian hamster, Mesocricetus auratus

    Article • July 2021, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  70. Accurate profiling of forensic autosomal STRs using the Oxford Nanopore Technologies MinION device

    Article • July 2021, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  71. Towards a Comprehensive Variation Benchmark for Challenging Medically-Relevant Autosomal Genes

    Article • June 2021, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  72. Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment

    Article • May 2021, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  73. Towards population-scale long-read sequencing

    Article • Nature Reviews Genetics, May 2021, Springer Science + Business Media

    Fritz Sedlazeck

  74. The complete sequence of a human genome

    Article • May 2021, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  75. Author Correction: Discovery and population genomics of structural variation in a songbird genus

    Article • Nature Communications, May 2021, Springer Science + Business Media

    Fritz Sedlazeck

  76. Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease

    Article • Movement Disorders, May 2021, Wiley

    Fritz Sedlazeck

  77. Mining Thousands of Genomes to Classify Somatic and Pathogenic Structural Variants

    Article • May 2021, Research Square

    Fritz Sedlazeck

  78. SVhound: Detection of future Structural Variation hotspots

    Article • April 2021, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  79. Optimized sample selection for cost-efficient long-read population sequencing

    Article • Genome Research, April 2021, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  80. muCNV: genotyping structural variants for population-level sequencing

    Article • Bioinformatics, March 2021, Oxford University Press (OUP)

    Fritz Sedlazeck

  81. Shotgun transcriptome, spatial omics, and isothermal profiling of SARS-CoV-2 infection reveals unique host responses, viral diversification, and drug interactions

    Article • Nature Communications, March 2021, Springer Science + Business Media

    Fritz Sedlazeck

  82. SARS-CoV-2 genomic diversity and the implications for qRT-PCR diagnostics and transmission

    Article • Genome Research, February 2021, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  83. High resolution copy number inference in cancer using short-molecule nanopore sequencing

    Article • December 2020, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  84. Oligonucleotide Capture Sequencing of the SARS-CoV-2 Genome and Subgenomic Fragments from COVID-19 Individuals

    Article • December 2020, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  85. Chromosome-scale, haplotype-resolved assembly of human genomes

    Article • Nature Biotechnology, December 2020, Springer Science + Business Media

    Fritz Sedlazeck

  86. Parliament2: Accurate structural variant calling at scale

    Article • GigaScience, December 2020, Oxford University Press (OUP)

    Fritz Sedlazeck

  87. Simultaneous profiling of chromatin accessibility and methylation on human cell lines with nanopore sequencing

    Article • Nature Chemical Biology, November 2020, Springer Science + Business Media

    Fritz Sedlazeck

  88. precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions

    Article • November 2020, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  89. Complex mosaic structural variations in human fetal brains

    Article • Genome Research, October 2020, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  90. A diploid assembly-based benchmark for variants in the major histocompatibility complex

    Article • Nature Communications, September 2020, Springer Science + Business Media

    Fritz Sedlazeck

  91. Methods developed during the first National Center for Biotechnology Information Structural Variation Codeathon at Baylor College of Medicine

    Article • F1000Research, September 2020, Faculty of 1000, Ltd.

    Fritz Sedlazeck

  92. Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing

    Article • Genome Research, September 2020, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  93. SVCollector: Optimized sample selection for cost-efficient long-read population sequencing

    Article • August 2020, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  94. Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals

    Article • July 2020, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  95. Benchmarking challenging small variants with linked and long reads

    Article • July 2020, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  96. Multi-Platform Assessment of DNA Sequencing Performance using Human and Bacterial Reference Genomes in the ABRF Next-Generation Sequencing Study

    Article • July 2020, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  97. Author Correction: A robust benchmark for detection of germline large deletions and insertions

    Article • Nature Biotechnology, July 2020, Springer Science + Business Media

    Fritz Sedlazeck

  98. Discovery and population genomics of structural variation in a songbird genus

    Article • Nature Communications, July 2020, Springer Science + Business Media

    Fritz Sedlazeck

  99. Hidden genomic diversity of SARS-CoV-2: implications for qRT-PCR diagnostics and transmission

    Article • July 2020, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  100. PhaseME: Automatic rapid assessment of phasing quality and phasing improvement

    Article • GigaScience, July 2020, Oxford University Press (OUP)

    Fritz Sedlazeck

  101. Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato

    Article • Cell, July 2020, Elsevier

    Fritz Sedlazeck

  102. A robust benchmark for detection of germline large deletions and insertions

    Article • Nature Biotechnology, June 2020, Springer Science + Business Media

    Fritz Sedlazeck

  103. Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes

    Article • Nature Biotechnology, May 2020, Springer Science + Business Media

    Fritz Sedlazeck

  104. Multiethnic catalog of structural variants and their translational impact for disease phenotypes across 19,652 genomes

    Article • May 2020, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  105. Shotgun Transcriptome and Isothermal Profiling of SARS-CoV-2 Infection Reveals Unique Host Responses, Viral Diversification, and Drug Interactions

    Article • April 2020, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  106. Targeted nanopore sequencing with Cas9-guided adapter ligation

    Article • Nature Biotechnology, February 2020, Springer Science + Business Media

    Fritz Sedlazeck

  107. Paragraph: a graph-based structural variant genotyper for short-read sequence data

    Article • December 2019, Springer Science + Business Media

    Fritz Sedlazeck

  108. Structural variant calling: the long and the short of it

    Article • November 2019, Springer Science + Business Media

    Fritz Sedlazeck, Ninon Mounier, Dr Christophe Dessimoz

  109. Comprehensive analysis of structural variants in breast cancer genomes using single molecule sequencing

    Article • November 2019, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  110. Approaches to Whole Mitochondrial Genome Sequencing on the Oxford Nanopore MinION

    Article • Current Protocols in Human Genetics, November 2019, Wiley

    Fritz Sedlazeck

  111. The population genomics of structural variation in a songbird genus

    Article • November 2019, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  112. A Genocentric Approach to Discovery of Mendelian Disorders

    Article • The American Journal of Human Genetics, November 2019, Elsevier

    Fritz Sedlazeck

  113. RaGOO: fast and accurate reference-guided scaffolding of draft genomes

    Article • October 2019, Springer Science + Business Media

    Fritz Sedlazeck

  114. Accurate chromosome-scale haplotype-resolved assembly of human genomes

    Article • October 2019, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  115. A strategy for building and using a human reference pangenome

    Article • F1000Research, October 2019, Faculty of 1000, Ltd.

    Fritz Sedlazeck, Dr Bastien Llamas, Justin M Zook, Alan Cleary, Yassine Souilmi

  116. Evaluation of computational genotyping of structural variation for clinical diagnoses

    Article • GigaScience, September 2019, Oxford University Press (OUP)

    Fritz Sedlazeck

  117. Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

    Article • Nature Biotechnology, August 2019, Springer Science + Business Media

    Fritz Sedlazeck

  118. Efficient de novo assembly of eleven human genomes using PromethION sequencing and a novel nanopore toolkit

    Article • July 2019, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  119. Author Correction: Duplication of a domestication locus neutralized a cryptic variant that caused a breeding barrier in tomato

    Article • Nature Plants, July 2019, Springer Science + Business Media

    Fritz Sedlazeck

  120. A robust benchmark for germline structural variant detection

    Article • June 2019, Cold Spring Harbor Laboratory Press

    Justin M Zook, Fritz Sedlazeck

  121. Ancestral Admixture Is the Main Determinant of Global Biodiversity in Fission Yeast

    Article • Molecular Biology and Evolution, May 2019, Oxford University Press (OUP)

    Fritz Sedlazeck

  122. Paragraph: A graph-based structural variant genotyper for short-read sequence data

    Article • May 2019, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  123. Duplication of a domestication locus neutralized a cryptic variant that caused a breeding barrier in tomato

    Article • Nature Plants, May 2019, Springer Science + Business Media

    Fritz Sedlazeck

  124. Targeted Nanopore Sequencing with Cas9 for studies of methylation, structural variants and mutations

    Article • April 2019, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  125. Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel

    Article • Genetics in Medicine, March 2019, Springer Science + Business Media

    Fritz Sedlazeck

  126. A multi-task convolutional deep neural network for variant calling in single molecule sequencing

    Article • Nature Communications, March 2019, Springer Science + Business Media

    Fritz Sedlazeck

  127. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2

    Article • Cell, March 2019, Elsevier

    Fritz Sedlazeck

  128. Evaluation of computational genotyping of Structural Variations for clinical diagnoses.

    Article • February 2019, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  129. Combined transcriptome and proteome profiling reveals specific molecular brain signatures for sex, maturation and circalunar clock phase

    Article • eLife, February 2019, eLife

    Fritz Sedlazeck, Florian Raible

  130. Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION

    Article • Molecular Genetics & Genomic Medicine, January 2019, Wiley

    Fritz Sedlazeck

  131. Fast and accurate reference-guided scaffolding of draft genomes

    Article • January 2019, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  132. Highly-accurate long-read sequencing improves variant detection and assembly of a human genome: Supplementary Material

    Article • January 2019, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  133. Simultaneous profiling of chromatin accessibility and methylation on human cell lines with nanopore sequencing: Supplemental Figures and Tables

    Article • December 2018, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  134. Genome-wide patterns of transposon proliferation in an evolutionary young hybrid fish

    Article • Molecular Ecology, December 2018, Wiley

    Fritz Sedlazeck

  135. Atlas-CNV: a validated approach to call Single-Exon CNVs in the eMERGESeq gene panel

    Article • September 2018, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  136. Parliament2: Fast Structural Variant Calling Using Optimized Combinations of Callers

    Article • September 2018, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  137. Ancestral admixture and structural mutation define global biodiversity in fission yeast

    Article • September 2018, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck, Dr Daniel C Jeffares

  138. Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line

    Article • Genome Research, June 2018, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  139. SVCollector: Optimized sample selection for validating and long-read resequencing of structural variants

    Article • June 2018, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  140. Accurate detection of complex structural variations using single-molecule sequencing

    Article • Nature Chemical Biology, April 2018, Springer Science + Business Media

    Fritz Sedlazeck

  141. Clairvoyante: a multi-task convolutional deep neural network for variant calling in Single Molecule Sequencing

    Article • April 2018, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  142. xAtlas: Scalable small variant calling across heterogeneous next-generation sequencing experiments

    Article • April 2018, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  143. Piercing the dark matter: bioinformatics of long-range sequencing and mapping

    Article • Nature Reviews Genetics, March 2018, Nature

    Fritz Sedlazeck

  144. Detection of GBA missense mutations and other variants using the Oxford Nanopore MinION

    Article • March 2018, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  145. Tools for annotation and comparison of structural variation

    Article • F1000Research, October 2017, Faculty of 1000, Ltd.

    Fritz Sedlazeck, Justin M Zook

  146. Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line

    Article • August 2017, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  147. Accurate detection of complex structural variations using single molecule sequencing

    Article • July 2017, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  148. Copy number increases of transposable elements and protein-coding genes in an invasive fish of hybrid origin

    Article • Molecular Ecology, April 2017, Wiley

    Fritz Sedlazeck

  149. DangerTrack: A scoring system to detect difficult-to-assess regions

    Article • F1000Research, April 2017, Faculty of 1000, Ltd.

    Fritz Sedlazeck

  150. GenomeScope: fast reference-free genome profiling from short reads

    Article • Bioinformatics, March 2017, Oxford University Press (OUP)

    Fritz Sedlazeck

  151. LRSim: a Linked Reads Simulator generating insights for better genome partitioning

    Article • January 2017, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  152. Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast

    Article • Nature Communications, January 2017, Nature

    Fritz Sedlazeck, Dr Daniel C Jeffares, Dr Christophe Dessimoz, Professor Jurg Bahler

  153. LRSim: A Linked-Reads Simulator Generating Insights for Better Genome Partitioning

    Article • Computational and Structural Biotechnology Journal, January 2017, Elsevier

    Fritz Sedlazeck

  154. Correction: Chromosomal-Level Assembly of the Asian Seabass Genome Using Long Sequence Reads and Multi-layered Scaffolding

    Article • PLoS Genetics, December 2016, PLOS

    Fritz Sedlazeck

  155. The genomic basis of circadian and circalunar timing adaptations in a midge

    Article • Nature, November 2016, Nature

    Fritz Sedlazeck

  156. SplitThreader: Exploration and analysis of rearrangements in cancer genomes

    Article • November 2016, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  157. Phased diploid genome assembly with single-molecule real-time sequencing

    Article • Nature Chemical Biology, October 2016, Nature

    Fritz Sedlazeck, Dr Joseph R Ecker

  158. GenomeScope: Fast reference-free genome profiling from short reads

    Article • September 2016, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  159. Phased Diploid Genome Assembly with Single Molecule Real-Time Sequencing

    Article • June 2016, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  160. Chromosomal-Level Assembly of the Asian Seabass Genome Using Long Sequence Reads and Multi-layered Scaffolding

    Article • PLoS Genetics, April 2016, PLOS

    Fritz Sedlazeck

  161. Transient structural variations alter gene expression and quantitative traits in Schizosaccharomyces pombe.

    Article • April 2016, Cold Spring Harbor Laboratory Press

    Dr Daniel C Jeffares, Dr Christophe Dessimoz, Fritz Sedlazeck

  162. The pineapple genome and the evolution of CAM photosynthesis

    Article • Nature Genetics, November 2015, Nature

    Fritz Sedlazeck

  163. Teaser: Individualized benchmarking and optimization of read mapping results for NGS data

    Article • October 2015, Springer Science + Business Media

    Fritz Sedlazeck

  164. The Candida albicans Histone Acetyltransferase Hat1 Regulates Stress Resistance and Virulence via Distinct Chromatin Assembly Pathways

    Article • PLoS Pathogens, October 2015, PLOS

    Fritz Sedlazeck

  165. Ectodysplasin signalling genes and phenotypic evolution in sculpins ( Cottus )

    Article • Proceedings of the Royal Society B Biological Sciences, September 2015, Royal Society Publishing

    Fritz Sedlazeck

  166. Teaser: Individualized benchmarking and optimization of read mapping results for NGS data

    Article • September 2015, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck

  167. Decreased expression of endogenous feline leukemia virus in cat lymphomas: a case control study

    Article • BMC Veterinary Research, April 2015, Springer Science + Business Media

    Fritz Sedlazeck

  168. ADAR2 induces reproducible changes in sequence and abundance of mature microRNAs in the mouse brain

    Article • Nucleic Acids Research, September 2014, Oxford University Press (OUP)

    Fritz Sedlazeck

  169. Corrigendum: Updating benchtop sequencing performance comparison

    Article • Nature Biotechnology, December 2013, Nature

    Fritz Sedlazeck, Prof. Dr. Alexander Mellmann

  170. NextGenMap: fast and accurate read mapping in highly polymorphic genomes

    Article • Bioinformatics, August 2013, Oxford University Press (OUP)

    Fritz Sedlazeck

  171. Updating benchtop sequencing performance comparison

    Article • Nature Biotechnology, April 2013, Nature

    Fritz Sedlazeck, Prof. Dr. Alexander Mellmann

  172. Benefit-of-doubt (BOD) scoring: A sequencing-based method for SNP candidate assessment from high to medium read number data sets

    Article • Genomics, March 2013, Elsevier

    Fritz Sedlazeck

  173. Advanced Methylome Analysis after Bisulfite Deep Sequencing: An Example in Arabidopsis

    Article • PLOS One, July 2012, PLOS

    Fritz Sedlazeck

  174. Adenosine deaminases that act on RNA induce reproducible changes in abundance and sequence of embryonic miRNAs

    Article • Genome Research, February 2012, Cold Spring Harbor Laboratory Press

    Fritz Sedlazeck