User profiles for F. J. Sedlazeck

Fritz J Sedlazeck

Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza …
Verified email at bcm.edu
Cited by 16470

[HTML][HTML] Towards population-scale long-read sequencing

…, MH Weissensteiner, FJ Sedlazeck - Nature Reviews …, 2021 - nature.com
Long-read sequencing technologies have now reached a level of accuracy and yield that
allows their application to variant detection at a scale of tens to thousands of samples. …

[HTML][HTML] Structural variant calling: the long and the short of it

…, N Mounier, C Dessimoz, FJ Sedlazeck - Genome biology, 2019 - Springer
Recent research into structural variants (SVs) has established their importance to medicine
and molecular biology, elucidating their role in various diseases, regulation of gene …

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

FJ Sedlazeck, H Lee, CA Darby, MC Schatz - Nature Reviews Genetics, 2018 - nature.com
Several new genomics technologies have become available that offer long-read sequencing
or long-range mapping with higher throughput and higher resolution analysis than ever …

The complete sequence of a human genome

…, SL Salzberg, VA Schneider, FJ Sedlazeck… - Science, 2022 - science.org
Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. …

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

CS Chin, P Peluso, FJ Sedlazeck, M Nattestad… - Nature …, 2016 - nature.com
While genome assembly projects have been successful in many haploid and inbred species,
the assembly of noninbred or rearranged heterozygous genomes remains a major …

Accurate detection of complex structural variations using single-molecule sequencing

FJ Sedlazeck, P Rescheneder, M Smolka, H Fang… - Nature …, 2018 - nature.com
Structural variations are the greatest source of genetic variation, but they remain poorly
understood because of technological limitations. Single-molecule long-read sequencing has the …

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

…, MA DePristo, J Ruan, T Marschall, FJ Sedlazeck… - Nature …, 2019 - nature.com
The DNA sequencing technologies in use today produce either highly accurate short reads
or less-accurate long reads. We report the optimization of circular consensus sequencing (…

GenomeScope: fast reference-free genome profiling from short reads

GW Vurture, FJ Sedlazeck, M Nattestad… - …, 2017 - academic.oup.com
… Fritz J Sedlazeck , Fritz J Sedlazeck … Gregory W Vurture, Fritz J Sedlazeck, Maria Nattestad,
Charles J Underwood, Han Fang, James Gurtowski, Michael C Schatz, GenomeScope: fast …

[PDF][PDF] Major impacts of widespread structural variation on gene expression and crop improvement in tomato

…, S Hutton, J Van Eck, J Gillis, Y Eshed, FJ Sedlazeck… - Cell, 2020 - cell.com
Structural variants (SVs) underlie important crop improvement and domestication traits.
However, resolving the extent, diversity, and quantitative impact of SVs has been challenging. …

The complete sequence of a human Y chromosome

…, F Ryabov, SL Salzberg, MEG Sauria, FJ Sedlazeck… - Nature, 2023 - nature.com
The human Y chromosome has been notoriously difficult to sequence and assemble
because of its complex repeat structure that includes long palindromes, tandem repeats and …