FRITZ SEDLAZECK to Humans
This is a "connection" page, showing publications FRITZ SEDLAZECK has written about Humans.
Connection Strength
0.794
-
Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk. BMC Med Genomics. 2024 10 24; 17(1):255.
Score: 0.026
-
Impact and characterization of serial structural variations across humans and great apes. Nat Commun. 2024 Sep 13; 15(1):8007.
Score: 0.026
-
MethPhaser: methylation-based long-read haplotype phasing of human genomes. Nat Commun. 2024 Jun 22; 15(1):5327.
Score: 0.026
-
Unveiling microbial diversity: harnessing long-read sequencing technology. Nat Methods. 2024 Jun; 21(6):954-966.
Score: 0.025
-
Utility of long-read sequencing for All of Us. Nat Commun. 2024 Jan 29; 15(1):837.
Score: 0.025
-
Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 Oct; 42(10):1571-1580.
Score: 0.025
-
FixItFelix: improving genomic analysis by fixing reference errors. Genome Biol. 2023 02 21; 24(1):31.
Score: 0.023
-
SVhound: detection of regions that harbor yet undetected structural variation. BMC Bioinformatics. 2023 Jan 20; 24(1):23.
Score: 0.023
-
Truvari: refined structural variant comparison preserves allelic diversity. Genome Biol. 2022 12 27; 23(1):271.
Score: 0.023
-
Fully resolved assembly of Cryptosporidium parvum. Gigascience. 2022 02 15; 11.
Score: 0.022
-
PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation. Genome Biol. 2021 09 14; 22(1):268.
Score: 0.021
-
Towards population-scale long-read sequencing. Nat Rev Genet. 2021 09; 22(9):572-587.
Score: 0.021
-
Optimized sample selection for cost-efficient long-read population sequencing. Genome Res. 2021 05; 31(5):910-918.
Score: 0.020
-
Parliament2: Accurate structural variant calling at scale. Gigascience. 2020 12 21; 9(12).
Score: 0.020
-
PhaseME: Automatic rapid assessment of phasing quality and phasing improvement. Gigascience. 2020 07 01; 9(7).
Score: 0.019
-
Evaluation of computational genotyping of structural variation for clinical diagnoses. Gigascience. 2019 09 01; 8(9).
Score: 0.018
-
Piercing the dark matter: bioinformatics of long-range sequencing and mapping. Nat Rev Genet. 2018 06; 19(6):329-346.
Score: 0.017
-
Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods. 2018 06; 15(6):461-468.
Score: 0.017
-
Updating benchtop sequencing performance comparison. Nat Biotechnol. 2013 Apr; 31(4):294-6.
Score: 0.012
-
Benefit-of-doubt (BOD) scoring: a sequencing-based method for SNP candidate assessment from high to medium read number data sets. Genomics. 2013 Mar; 101(3):204-9.
Score: 0.011
-
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: 0.007
-
Small variant benchmark from a complete assembly of X and Y chromosomes. Nat Commun. 2025 Jan 08; 16(1):497.
Score: 0.007
-
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression. Genome Med. 2024 Dec 18; 16(1):146.
Score: 0.007
-
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: 0.007
-
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps. Genome Res. 2024 Nov 20; 34(11):1785-1797.
Score: 0.007
-
The GIAB genomic stratifications resource for human reference genomes. Nat Commun. 2024 Oct 19; 15(1):9029.
Score: 0.007
-
When less is more: sketching with minimizers in genomics. Genome Biol. 2024 Oct 14; 25(1):270.
Score: 0.007
-
Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes. Cell Genom. 2024 Nov 13; 4(11):100674.
Score: 0.007
-
StratoMod: predicting sequencing and variant calling errors with interpretable machine learning. Commun Biol. 2024 Oct 13; 7(1):1316.
Score: 0.007
-
Single-cell somatic copy number variants in brain using different amplification methods and reference genomes. Commun Biol. 2024 Oct 09; 7(1):1288.
Score: 0.007
-
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: 0.006
-
Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci. Cell Genom. 2024 Jul 10; 4(7):100590.
Score: 0.006
-
Germline structural variation globally impacts the cancer transcriptome including disease-relevant genes. Cell Rep Med. 2024 Mar 19; 5(3):101446.
Score: 0.006
-
Characterization and visualization of tandem repeats at genome scale. Nat Biotechnol. 2024 Oct; 42(10):1606-1614.
Score: 0.006
-
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: 0.006
-
The complete sequence of a human Y chromosome. Nature. 2023 Sep; 621(7978):344-354.
Score: 0.006
-
Beyond the exome: What's next in diagnostic testing for Mendelian conditions. Am J Hum Genet. 2023 08 03; 110(8):1229-1248.
Score: 0.006
-
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: 0.006
-
Variant calling and benchmarking in an era of complete human genome sequences. Nat Rev Genet. 2023 Jul; 24(7):464-483.
Score: 0.006
-
Intratumoral Heterogeneity and Clonal Evolution Induced by HPV Integration. Cancer Discov. 2023 04 03; 13(4):910-927.
Score: 0.006
-
Genome-Wide Analysis of Structural Variants in Parkinson Disease. Ann Neurol. 2023 05; 93(5):1012-1022.
Score: 0.006
-
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Am J Med Genet A. 2023 03; 191(3):794-804.
Score: 0.006
-
Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program. Nat Commun. 2022 12 08; 13(1):7592.
Score: 0.006
-
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation. Genome Med. 2022 10 27; 14(1):122.
Score: 0.006
-
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. Hum Mutat. 2022 12; 43(12):2033-2053.
Score: 0.006
-
Multiple genome alignment in the telomere-to-telomere assembly era. Genome Biol. 2022 08 29; 23(1):182.
Score: 0.006
-
Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson's disease-associated GBA gene. Commun Biol. 2022 07 06; 5(1):670.
Score: 0.006
-
The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms. F1000Res. 2022; 11:530.
Score: 0.006
-
TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data. Am J Hum Genet. 2022 06 02; 109(6):1175-1181.
Score: 0.006
-
Searching thousands of genomes to classify somatic and novel structural variants using STIX. Nat Methods. 2022 04; 19(4):445-448.
Score: 0.005
-
A complete reference genome improves analysis of human genetic variation. Science. 2022 04; 376(6588):eabl3533.
Score: 0.005
-
The complete sequence of a human genome. Science. 2022 04; 376(6588):44-53.
Score: 0.005
-
Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing. Nat Biotechnol. 2022 07; 40(7):1035-1041.
Score: 0.005
-
Rescuing low frequency variants within intra-host viral populations directly from Oxford Nanopore sequencing data. Nat Commun. 2022 03 14; 13(1):1321.
Score: 0.005
-
Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock. Circ Genom Precis Med. 2022 04; 15(2):e003591.
Score: 0.005
-
Curated variation benchmarks for challenging medically relevant autosomal genes. Nat Biotechnol. 2022 05; 40(5):672-680.
Score: 0.005
-
Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting. N Engl J Med. 2022 02 17; 386(7):700-702.
Score: 0.005
-
Assessing reproducibility of inherited variants detected with short-read whole genome sequencing. Genome Biol. 2022 01 03; 23(1):2.
Score: 0.005
-
High resolution copy number inference in cancer using short-molecule nanopore sequencing. Nucleic Acids Res. 2021 12 02; 49(21):e124.
Score: 0.005
-
Accurate profiling of forensic autosomal STRs using the Oxford Nanopore Technologies MinION device. Forensic Sci Int Genet. 2022 01; 56:102629.
Score: 0.005
-
Investigation of product-derived lymphoma following infusion of piggyBac-modified CD19 chimeric antigen receptor T cells. Blood. 2021 10 21; 138(16):1391-1405.
Score: 0.005
-
Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment. Gigascience. 2021 09 24; 10(9).
Score: 0.005
-
Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study. Nat Biotechnol. 2021 09; 39(9):1129-1140.
Score: 0.005
-
Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals. PLoS One. 2021; 16(8):e0244468.
Score: 0.005
-
Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease. Mov Disord. 2021 06; 36(6):1456-1460.
Score: 0.005
-
muCNV: Genotyping Structural Variants for Population-level Sequencing. Bioinformatics. 2021 08 04; 37(14):2055?2057.
Score: 0.005
-
Shotgun transcriptome, spatial omics, and isothermal profiling of SARS-CoV-2 infection reveals unique host responses, viral diversification, and drug interactions. Nat Commun. 2021 03 12; 12(1):1660.
Score: 0.005
-
SARS-CoV-2 genomic diversity and the implications for qRT-PCR diagnostics and transmission. Genome Res. 2021 04; 31(4):635-644.
Score: 0.005
-
Chromosome-scale, haplotype-resolved assembly of human genomes. Nat Biotechnol. 2021 03; 39(3):309-312.
Score: 0.005
-
Simultaneous profiling of chromatin accessibility and methylation on human cell lines with nanopore sequencing. Nat Methods. 2020 12; 17(12):1191-1199.
Score: 0.005
-
Complex mosaic structural variations in human fetal brains. Genome Res. 2020 12; 30(12):1695-1704.
Score: 0.005
-
A diploid assembly-based benchmark for variants in the major histocompatibility complex. Nat Commun. 2020 09 22; 11(1):4794.
Score: 0.005
-
Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing. Genome Res. 2020 09; 30(9):1258-1273.
Score: 0.005
-
A robust benchmark for detection of germline large deletions and insertions. Nat Biotechnol. 2020 11; 38(11):1347-1355.
Score: 0.005
-
Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes. Nat Biotechnol. 2020 09; 38(9):1044-1053.
Score: 0.005
-
Targeted nanopore sequencing with Cas9-guided adapter ligation. Nat Biotechnol. 2020 04; 38(4):433-438.
Score: 0.005
-
Potential applications of nanopore sequencing for forensic analysis. Forensic Sci Rev. 2020 Jan; 32(1):23-54.
Score: 0.005
-
Paragraph: a graph-based structural variant genotyper for short-read sequence data. Genome Biol. 2019 12 19; 20(1):291.
Score: 0.005
-
Approaches to Whole Mitochondrial Genome Sequencing on the Oxford Nanopore MinION. Curr Protoc Hum Genet. 2019 12; 104(1):e94.
Score: 0.005
-
Structural variant calling: the long and the short of it. Genome Biol. 2019 11 20; 20(1):246.
Score: 0.005
-
A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986.
Score: 0.005
-
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. Nat Biotechnol. 2019 10; 37(10):1155-1162.
Score: 0.005
-
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 2019 09; 21(9):2135-2144.
Score: 0.004
-
A multi-task convolutional deep neural network for variant calling in single molecule sequencing. Nat Commun. 2019 03 01; 10(1):998.
Score: 0.004
-
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 03 07; 176(6):1310-1324.e10.
Score: 0.004
-
Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION. Mol Genet Genomic Med. 2019 03; 7(3):e564.
Score: 0.004
-
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: 0.004
-
Phased diploid genome assembly with single-molecule real-time sequencing. Nat Methods. 2016 Dec; 13(12):1050-1054.
Score: 0.004
-
ADAR2 induces reproducible changes in sequence and abundance of mature microRNAs in the mouse brain. Nucleic Acids Res. 2014 Oct 29; 42(19):12155-68.
Score: 0.003