User profiles for F. J. Sedlazeck
Fritz J SedlazeckHuman 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. …
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 …
and molecular biology, elucidating their role in various diseases, regulation of gene …
Piercing the dark matter: bioinformatics of long-range sequencing and mapping
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 …
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. …
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. …
Phased diploid genome assembly with single-molecule real-time sequencing
While genome assembly projects have been successful in many haploid and inbred species,
the assembly of noninbred or rearranged heterozygous genomes remains a major …
the assembly of noninbred or rearranged heterozygous genomes remains a major …
Accurate detection of complex structural variations using single-molecule sequencing
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 …
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
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 (…
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 …
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
Structural variants (SVs) underlie important crop improvement and domestication traits.
However, resolving the extent, diversity, and quantitative impact of SVs has been challenging. …
However, resolving the extent, diversity, and quantitative impact of SVs has been challenging. …
The complete sequence of a human Y chromosome
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 …
because of its complex repeat structure that includes long palindromes, tandem repeats and …