Search filters

List of works by Fritz Sedlazeck

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

scientific article published on 22 September 2020

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

scientific article published on 01 March 2019

A robust benchmark for detection of germline large deletions and insertions

scientific article published on 15 June 2020

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

scientific article

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

scientific article published on 12 August 2019

Accurate detection of complex structural variations using single-molecule sequencing

article by Fritz Sedlazeck et al published June 2018 in Nature Methods

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

scientific article

Advanced methylome analysis after bisulfite deep sequencing: an example in Arabidopsis.

scientific article

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

scientific article published on 01 September 2019

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

scientific article published on 26 March 2021

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

scientific article published on 22 July 2020

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

scientific article published on 01 August 2019

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

correction of a scholarly article

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

scientific article

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

scientific article

Chromosome-scale, haplotype-resolved assembly of human genomes

scientific article published on 07 December 2020

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

scholarly article published 28 April 2018

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

scientific article published on 15 February 2019

Complex mosaic structural variations in human fetal brains

scientific article published on 29 October 2020

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

scientific article published on 28 June 2018

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

scientific article published on 04 September 2020

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

scientific article published on 01 May 2022

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

scientific article published on 8 April 2017

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

scientific article published on 9 December 2016

Curated variation benchmarks for challenging medically relevant autosomal genes

scientific article published in 2022

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

scientific article

De Novo Genome Assembly for the Coppery Titi Monkey (<i>Plecturocebus cupreus</i>): An Emerging Nonhuman Primate Model for Behavioral Research

scientific article published in 2024

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

scientific article published on 10 April 2015

Discovery and population genomics of structural variation in a songbird genus

scientific article published on 07 July 2020

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

scientific article published on 06 May 2019

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

scientific article published in September 2015

Erratum: Corrigendum: Updating benchtop sequencing performance comparison

scholarly article published in Nature Biotechnology

Evaluation of computational genotyping of structural variation for clinical diagnoses

scientific article published on 01 September 2019

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

scientific article published on 13 January 2019

Fast and accurate reference-guided scaffolding of draft genomes

article published in 2019

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

scientific article

Genome‐wide patterns of transposon proliferation in an evolutionary young hybrid fish

scientific article published on 06 February 2019

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

scientific article published on 02 July 2020

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

article

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

scientific article published on 9 November 2017

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

scientific article published on 28 February 2019

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

scientific article published on 04 May 2020

NextGenMap: fast and accurate read mapping in highly polymorphic genomes

scientific article

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

scientific article published on 14 September 2021

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

scientific article published on 09 September 2021

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

scientific article

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

scientific article

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

scientific article published on 18 February 2021

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

scientific article published on 08 April 2022

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

scientific article published on 23 November 2020

Structural variant calling: the long and the short of it

scientific article published on 20 November 2019

Targeted nanopore sequencing with Cas9-guided adapter ligation

scientific article published on 10 February 2020

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

scientific article published on 22 October 2015

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

scientific article

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

scientific article

The pineapple genome and the evolution of CAM photosynthesis

scientific article published on 2 November 2015

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

scientific article published in 2022

Tools for annotation and comparison of structural variation

scientific article published on 3 October 2017

Towards population-scale long-read sequencing

publication published on 28 May 2021

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

scientific article

Updating benchtop sequencing performance comparison

scientific article published in April 2013

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

scientific article

Paulina is supported by:

About Paulina

Help