FRITZ SEDLAZECK to Genome, Human
This is a "connection" page, showing publications FRITZ SEDLAZECK has written about Genome, Human.
Connection Strength
8.092
-
Closing the gaps, and improving somatic structural variant analysis and benchmarking using CHM13-T2T. Genome Res. 2025 Apr 14; 35(4):621-631.
Score: 0.566
-
A Hitchhiker's Guide to long-read genomic analysis. Genome Res. 2025 Apr 14; 35(4):545-558.
Score: 0.566
-
Comprehensive genome analysis and variant detection at scale using DRAGEN. Nat Biotechnol. 2025 Jul; 43(7):1177-1191.
Score: 0.548
-
Impact and characterization of serial structural variations across humans and great apes. Nat Commun. 2024 09 13; 15(1):8007.
Score: 0.544
-
MethPhaser: methylation-based long-read haplotype phasing of human genomes. Nat Commun. 2024 Jun 22; 15(1):5327.
Score: 0.535
-
Analysis and benchmarking of small and large genomic variants across tandem repeats. Nat Biotechnol. 2025 Mar; 43(3):431-442.
Score: 0.529
-
FixItFelix: improving genomic analysis by fixing reference errors. Genome Biol. 2023 02 21; 24(1):31.
Score: 0.488
-
Towards population-scale long-read sequencing. Nat Rev Genet. 2021 09; 22(9):572-587.
Score: 0.433
-
Optimized sample selection for cost-efficient long-read population sequencing. Genome Res. 2021 05; 31(5):910-918.
Score: 0.428
-
Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair. Sci Data. 2025 Jul 16; 12(1):1195.
Score: 0.144
-
Long-read sequencing of 945 Han individuals identifies structural variants associated with phenotypic diversity and disease susceptibility. Nat Commun. 2025 Feb 10; 16(1):1494.
Score: 0.140
-
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation. Genome Res. 2024 Nov 20; 34(11):2061-2073.
Score: 0.138
-
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps. Genome Res. 2024 Nov 20; 34(11):1785-1797.
Score: 0.138
-
The GIAB genomic stratifications resource for human reference genomes. Nat Commun. 2024 10 19; 15(1):9029.
Score: 0.137
-
Single-cell somatic copy number variants in brain using different amplification methods and reference genomes. Commun Biol. 2024 Oct 09; 7(1):1288.
Score: 0.137
-
Unveiling novel genetic variants in 370 challenging medically relevant genes using the long read sequencing data of 41 samples from 19 global populations. Mol Genet Genomics. 2024 Jul 07; 299(1):65.
Score: 0.134
-
Utility of long-read sequencing for All of Us. Nat Commun. 2024 Jan 29; 15(1):837.
Score: 0.130
-
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation. Nat Methods. 2023 10; 20(10):1483-1492.
Score: 0.127
-
Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes. Nat Methods. 2023 08; 20(8):1213-1221.
Score: 0.125
-
Variant calling and benchmarking in an era of complete human genome sequences. Nat Rev Genet. 2023 07; 24(7):464-483.
Score: 0.123
-
SVhound: detection of regions that harbor yet undetected structural variation. BMC Bioinformatics. 2023 Jan 20; 24(1):23.
Score: 0.121
-
Truvari: refined structural variant comparison preserves allelic diversity. Genome Biol. 2022 12 27; 23(1):271.
Score: 0.121
-
Multiple genome alignment in the telomere-to-telomere assembly era. Genome Biol. 2022 08 29; 23(1):182.
Score: 0.118
-
A complete reference genome improves analysis of human genetic variation. Science. 2022 04; 376(6588):eabl3533.
Score: 0.115
-
The complete sequence of a human genome. Science. 2022 04; 376(6588):44-53.
Score: 0.115
-
Curated variation benchmarks for challenging medically relevant autosomal genes. Nat Biotechnol. 2022 05; 40(5):672-680.
Score: 0.114
-
Assessing reproducibility of inherited variants detected with short-read whole genome sequencing. Genome Biol. 2022 01 03; 23(1):2.
Score: 0.113
-
PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation. Genome Biol. 2021 09 14; 22(1):268.
Score: 0.110
-
Parliament2: Accurate structural variant calling at scale. Gigascience. 2020 12 21; 9(12).
Score: 0.105
-
Chromosome-scale, haplotype-resolved assembly of human genomes. Nat Biotechnol. 2021 03; 39(3):309-312.
Score: 0.105
-
Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes. Nat Biotechnol. 2020 09; 38(9):1044-1053.
Score: 0.100
-
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. Nat Biotechnol. 2019 10; 37(10):1155-1162.
Score: 0.096
-
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 2019 09; 21(9):2135-2144.
Score: 0.093
-
A multi-task convolutional deep neural network for variant calling in single molecule sequencing. Nat Commun. 2019 03 01; 10(1):998.
Score: 0.093
-
Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods. 2018 06; 15(6):461-468.
Score: 0.087
-
Unraveling the hidden complexity of cancer through long-read sequencing. Genome Res. 2025 Apr 14; 35(4):599-620.
Score: 0.035
-
Small variant benchmark from a complete assembly of X and Y chromosomes. Nat Commun. 2025 Jan 08; 16(1):497.
Score: 0.035
-
StratoMod: predicting sequencing and variant calling errors with interpretable machine learning. Commun Biol. 2024 Oct 13; 7(1):1316.
Score: 0.034
-
Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci. Cell Genom. 2024 Jul 10; 4(7):100590.
Score: 0.033
-
Characterization and visualization of tandem repeats at genome scale. Nat Biotechnol. 2024 Oct; 42(10):1606-1614.
Score: 0.032
-
Genome-Wide Analysis of Structural Variants in Parkinson Disease. Ann Neurol. 2023 05; 93(5):1012-1022.
Score: 0.030
-
Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment. Gigascience. 2021 09 24; 10(9).
Score: 0.028
-
Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study. Nat Biotechnol. 2021 09; 39(9):1129-1140.
Score: 0.028
-
Simultaneous profiling of chromatin accessibility and methylation on human cell lines with nanopore sequencing. Nat Methods. 2020 12; 17(12):1191-1199.
Score: 0.026
-
A diploid assembly-based benchmark for variants in the major histocompatibility complex. Nat Commun. 2020 09 22; 11(1):4794.
Score: 0.026
-
Paragraph: a graph-based structural variant genotyper for short-read sequence data. Genome Biol. 2019 12 19; 20(1):291.
Score: 0.024
-
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 03 07; 176(6):1310-1324.e10.
Score: 0.023
-
Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. Genome Res. 2018 08; 28(8):1126-1135.
Score: 0.022