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Author: Fritz J Sedlazeck

Rankings

  • All-time downloads: 141,293 (rank: 601 )
  • Categories:
    • bioinformatics: 50,838 (rank: 59 )
    • evolutionary biology: 993 (rank: 7,091 (tie) )
    • genetics: 2,392 (rank: 8,053 (tie) )
    • genomics: 68,876 (rank: 121 )
    • microbiology: 591 (rank: 24,741 (tie) )
    • molecular biology: 17,603 (rank: 79 (tie) )

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Preprints

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

bioinformatics more details view paper

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

genomics more details view paper

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The complete sequence of a human genome

genomics more details view paper
  • Downloaded 23,934 times
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    • Site-wide: 298
    • In genomics: 11
  • Year to date:
    • Site-wide: 43
  • Since beginning of last month:
    • Site-wide: 5

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

molecular biology more details view paper
  • Downloaded 17,603 times
  • Download rankings, all-time:
    • Site-wide: 411
    • In molecular biology: 6
  • Year to date:
    • Site-wide: 1,373
  • Since beginning of last month:
    • Site-wide: 1,697

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

genomics more details view paper
  • Downloaded 13,166 times
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    • Site-wide: 599
    • In genomics: 40
  • Year to date:
    • Site-wide: 4,468
  • Since beginning of last month:
    • Site-wide: 3,845

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

bioinformatics more details view paper
  • Downloaded 8,856 times
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    • Site-wide: 1,013
    • In bioinformatics: 57
  • Year to date:
    • Site-wide: 5,795
  • Since beginning of last month:
    • Site-wide: 7,059

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

genomics more details view paper
  • Downloaded 8,409 times
  • Download rankings, all-time:
    • Site-wide: 1,079
    • In genomics: 93
  • Year to date:
    • Site-wide: 9,005
  • Since beginning of last month:
    • Site-wide: 20,744

Phased Diploid Genome Assembly with Single Molecule Real-Time Sequencing

bioinformatics more details view paper
  • Downloaded 6,870 times
  • Download rankings, all-time:
    • Site-wide: 1,379
    • In bioinformatics: 87
  • Year to date:
    • Site-wide: 39,275
  • Since beginning of last month:
    • Site-wide: 51,696

A robust benchmark for germline structural variant detection

genomics more details view paper
  • Downloaded 5,933 times
  • Download rankings, all-time:
    • Site-wide: 1,719
    • In genomics: 148
  • Year to date:
    • Site-wide: 6,078
  • Since beginning of last month:
    • Site-wide: 4,826

Accurate detection of complex structural variations using single molecule sequencing

bioinformatics more details view paper
  • Downloaded 5,842 times
  • Download rankings, all-time:
    • Site-wide: 1,758
    • In bioinformatics: 127
  • Year to date:
    • Site-wide: 42,095
  • Since beginning of last month:
    • Site-wide: 51,832

Accurate chromosome-scale haplotype-resolved assembly of human genomes

bioinformatics more details view paper
  • Downloaded 4,063 times
  • Download rankings, all-time:
    • Site-wide: 2,889
    • In bioinformatics: 256
  • Year to date:
    • Site-wide: 5,789
  • Since beginning of last month:
    • Site-wide: 8,554

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

genomics more details view paper
  • Downloaded 3,946 times
  • Download rankings, all-time:
    • Site-wide: 3,015
    • In genomics: 329
  • Year to date:
    • Site-wide: 13,011
  • Since beginning of last month:
    • Site-wide: 14,780

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

bioinformatics more details view paper
  • Downloaded 3,909 times
  • Download rankings, all-time:
    • Site-wide: 3,054
    • In bioinformatics: 274
  • Year to date:
    • Site-wide: 40,421
  • Since beginning of last month:
    • Site-wide: 60,869

Parliament2: Fast Structural Variant Calling Using Optimized Combinations of Callers

bioinformatics more details view paper
  • Downloaded 3,885 times
  • Download rankings, all-time:
    • Site-wide: 3,091
    • In bioinformatics: 281
  • Year to date:
    • Site-wide: 11,301
  • Since beginning of last month:
    • Site-wide: 13,746

Fast and accurate reference-guided scaffolding of draft genomes

bioinformatics more details view paper
  • Downloaded 3,458 times
  • Download rankings, all-time:
    • Site-wide: 3,645
    • In bioinformatics: 361
  • Year to date:
    • Site-wide: 39,269
  • Since beginning of last month:
    • Site-wide: 36,538

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

bioinformatics more details view paper
  • Downloaded 2,839 times
  • Download rankings, all-time:
    • Site-wide: 4,816
    • In bioinformatics: 498
  • Year to date:
    • Site-wide: 14,167
  • Since beginning of last month:
    • Site-wide: 30,650

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

genomics more details view paper
  • Downloaded 2,604 times
  • Download rankings, all-time:
    • Site-wide: 5,456
    • In genomics: 591
  • Year to date:
    • Site-wide: 7,653
  • Since beginning of last month:
    • Site-wide: 4,968

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

genetics more details view paper
  • Downloaded 2,392 times
  • Download rankings, all-time:
    • Site-wide: 6,215
    • In genetics: 284
  • Year to date:
    • Site-wide: 55,989
  • Since beginning of last month:
    • Site-wide: 56,260

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

bioinformatics more details view paper
  • Downloaded 2,082 times
  • Download rankings, all-time:
    • Site-wide: 7,603
    • In bioinformatics: 881
  • Year to date:
    • Site-wide: 56,264
  • Since beginning of last month:
    • Site-wide: 50,700

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

bioinformatics more details view paper
  • Downloaded 1,918 times
  • Download rankings, all-time:
    • Site-wide: 8,585
    • In bioinformatics: 1,018
  • Year to date:
    • Site-wide: 1,997
  • Since beginning of last month:
    • Site-wide: 7,094

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

genomics more details view paper
  • Downloaded 1,854 times
  • Download rankings, all-time:
    • Site-wide: 9,025
    • In genomics: 960
  • Year to date:
    • Site-wide: 50,796
  • Since beginning of last month:
    • Site-wide: 28,653

Benchmarking challenging small variants with linked and long reads

genomics more details view paper
  • Downloaded 1,853 times
  • Download rankings, all-time:
    • Site-wide: 9,035
    • In genomics: 961
  • Year to date:
    • Site-wide: 3,097
  • Since beginning of last month:
    • Site-wide: 2,159

GenomeScope: Fast reference-free genome profiling from short reads

bioinformatics more details view paper
  • Downloaded 1,736 times
  • Download rankings, all-time:
    • Site-wide: 9,979
    • In bioinformatics: 1,178
  • Year to date:
    • Site-wide: 84,396
  • Since beginning of last month:
    • Site-wide: 77,650

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

genomics more details view paper
  • Downloaded 1,710 times
  • Download rankings, all-time:
    • Site-wide: 10,186
    • In genomics: 1,081
  • Year to date:
    • Site-wide: 99,284
  • Since beginning of last month:
    • Site-wide: 68,780

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

genomics more details view paper
  • Downloaded 1,450 times
  • Download rankings, all-time:
    • Site-wide: 12,983
    • In genomics: 1,362
  • Year to date:
    • Site-wide: 73,406
  • Since beginning of last month:
    • Site-wide: 140,893

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

bioinformatics more details view paper
  • Downloaded 1,248 times
  • Download rankings, all-time:
    • Site-wide: 16,281
    • In bioinformatics: 1,933
  • Year to date:
    • Site-wide: 121,775
  • Since beginning of last month:
    • Site-wide: 124,456

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

genomics more details view paper
  • Downloaded 1,189 times
  • Download rankings, all-time:
    • Site-wide: 17,516
    • In genomics: 1,768
  • Year to date:
    • Site-wide: 22,010
  • Since beginning of last month:
    • Site-wide: 21,912

SplitThreader: Exploration and analysis of rearrangements in cancer genomes

bioinformatics more details view paper
  • Downloaded 1,132 times
  • Download rankings, all-time:
    • Site-wide: 18,831
    • In bioinformatics: 2,223
  • Year to date:
    • Site-wide: 49,880
  • Since beginning of last month:
    • Site-wide: 51,732

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

bioinformatics more details view paper
  • Downloaded 1,010 times
  • Download rankings, all-time:
    • Site-wide: 22,242
    • In bioinformatics: 2,599
  • Year to date:
    • Site-wide: 60,182
  • Since beginning of last month:
    • Site-wide: 28,287

Ancestral admixture is the main determinant of global biodiversity in fission yeast

evolutionary biology more details view paper
  • Downloaded 993 times
  • Download rankings, all-time:
    • Site-wide: 22,761
    • In evolutionary biology: 977
  • Year to date:
    • Site-wide: 84,409
  • Since beginning of last month:
    • Site-wide: 63,291

The population genomics of structural variation in a songbird genus

genomics more details view paper
  • Downloaded 828 times
  • Download rankings, all-time:
    • Site-wide: 29,547
    • In genomics: 2,670
  • Year to date:
    • Site-wide: 82,948
  • Since beginning of last month:
    • Site-wide: 114,302

Evaluation of computational genotyping of Structural Variations for clinical diagnoses.

bioinformatics more details view paper
  • Downloaded 704 times
  • Download rankings, all-time:
    • Site-wide: 37,011
    • In bioinformatics: 4,055
  • Year to date:
    • Site-wide: 94,545
  • Since beginning of last month:
    • Site-wide: 111,439

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

genomics more details view paper
  • Downloaded 665 times
  • Download rankings, all-time:
    • Site-wide: 39,893
    • In genomics: 3,302
  • Year to date:
    • Site-wide: 6,416
  • Since beginning of last month:
    • Site-wide: 13,219

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

bioinformatics more details view paper
  • Downloaded 649 times
  • Download rankings, all-time:
    • Site-wide: 41,155
    • In bioinformatics: 4,432
  • Year to date:
    • Site-wide: 102,197
  • Since beginning of last month:
    • Site-wide: 78,942

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

genomics more details view paper
  • Downloaded 643 times
  • Download rankings, all-time:
    • Site-wide: 41,616
    • In genomics: 3,427
  • Year to date:
    • Site-wide: 64,417
  • Since beginning of last month:
    • Site-wide: 57,419

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

microbiology more details view paper
  • Downloaded 591 times
  • Download rankings, all-time:
    • Site-wide: 46,323
    • In microbiology: 2,878
  • Year to date:
    • Site-wide: 24,251
  • Since beginning of last month:
    • Site-wide: 35,241

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

genomics more details view paper
  • Downloaded 528 times
  • Download rankings, all-time:
    • Site-wide: 53,088
    • In genomics: 4,085
  • Year to date:
    • Site-wide: 108,354
  • Since beginning of last month:
    • Site-wide: 102,532

Mining Thousands of Genomes to Classify Somatic and Pathogenic Structural Variants

bioinformatics more details view paper
  • Downloaded 335 times
  • Download rankings, all-time:
    • Site-wide: 83,483
    • In bioinformatics: 7,549
  • Year to date:
    • Site-wide: 9,743
  • Since beginning of last month:
    • Site-wide: 13,061

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

bioinformatics more details view paper
  • Downloaded 302 times
  • Download rankings, all-time:
    • Site-wide: 90,480
    • In bioinformatics: 7,978
  • Year to date:
    • Site-wide: 58,553
  • Since beginning of last month:
    • Site-wide: 73,535

SVhound: Detection of future Structural Variation hotspots

genomics more details view paper
  • Downloaded 164 times
  • Download rankings, all-time:
    • Site-wide: 122,014
    • In genomics: 6,691
  • Year to date:
    • Site-wide: 25,232
  • Since beginning of last month:
    • Site-wide: 33,897

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