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Author Details

Fritz J Sedlazeck
Baylor College of Medicine
2012
116
38
PMIDPaper TitleJournal TitlePublished Year
37081138Inference of phylogenetic trees directly from raw sequencing reads using Read2Tree.Nat Biotechnol2024
38036856Improved sequence mapping using a complete reference genome and lift-over.Nat Methods2024
36598158A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.Am J Med Genet A2023
37961319Benchmarking of small and large variants across tandem repeats.bioRxiv2023
37798733Genomic variant benchmark: if you cannot measure it, you cannot improve it.Genome Biol2023
37710018Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation.Nat Methods2023
37612512The complete sequence of a human Y chromosome.Nature2023
37885757VariantSurvival: a tool to identify genotype-treatment response.Front Bioinform2023
37609320Single-cell somatic copy number variants in brain using different amplification methods and reference genomes.bioRxiv2023
37541186Beyond the exome: What's next in diagnostic testing for Mendelian conditions.Am J Hum Genet2023
37873367Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures.bioRxiv2023
37059810Variant calling and benchmarking in an era of complete human genome sequences.Nat Rev Genet2023
37365340Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes.Nat Methods2023
37163057Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.bioRxiv2023
36695634Genome-Wide Analysis of Structural Variants in Parkinson Disease.Ann Neurol2023
36747810Structural variation across 138,134 samples in the TOPMed consortium.bioRxiv2023
36810122FixItFelix: improving genomic analysis by fixing reference errors.Genome Biol2023
36715691Intratumoral Heterogeneity and Clonal Evolution Induced by HPV Integration.Cancer Discov2023
36778386Structural variation across 138,134 samples in the TOPMed consortium.Res Sq2023
36713248Beyond the exome: what's next in diagnostic testing for Mendelian conditions.ArXiv2023
36670361SVhound: detection of regions that harbor yet undetected structural variation.BMC Bioinformatics2023
34837788Accurate profiling of forensic autosomal STRs using the Oxford Nanopore Technologies MinION device.Forensic Sci Int Genet2022
35347328Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing.Nat Biotechnol2022
35504290TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data.Am J Hum Genet2022
35794204Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson's disease-associated GBA gene.Commun Biol2022
35640223Construction of a new chromosome-scale, long-read reference genome assembly for the Syrian hamster, Mesocricetus auratus.Gigascience2022
35396485Searching thousands of genomes to classify somatic and novel structural variants using STIX.Nat Methods2022
35720974PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions.Cell Genom2022
35357935A complete reference genome improves analysis of human genetic variation.Science2022
35618956Author Correction: Searching thousands of genomes to classify somatic and novel structural variants using STIX.Nat Methods2022
36644891xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments.Gigascience2022
36466276Frequent spontaneous structural rearrangements promote rapid genome diversification in a <i>Brassica napus</i> F1 generation.Front Plant Sci2022
36575487Truvari: refined structural variant comparison preserves allelic diversity.Genome Biol2022
36561179Read2Tree: scalable and accurate phylogenetic trees from raw reads.bioRxiv2022
36481753Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program.Nat Commun2022
36038949Multiple genome alignment in the telomere-to-telomere assembly era.Genome Biol2022
36303224The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.Genome Med2022
36127716Author Correction: Towards accurate and reliable resolution of structural variants for clinical diagnosis.Genome Biol2022
36262335The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms.F1000Res2022
36054313Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.Hum Mutat2022
35133172Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock.Circ Genom Precis Med2022
35132260Curated variation benchmarks for challenging medically relevant autosomal genes.Nat Biotechnol2022
35288552Rescuing low frequency variants within intra-host viral populations directly from Oxford Nanopore sequencing data.Nat Commun2022
34980216Assessing reproducibility of inherited variants detected with short-read whole genome sequencing.Genome Biol2022
35241127Towards accurate and reliable resolution of structural variants for clinical diagnosis.Genome Biol2022
35020984Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting.N Engl J Med2022
35166336Fully resolved assembly of Cryptosporidium parvum.Gigascience2022
33288905Chromosome-scale, haplotype-resolved assembly of human genomes.Nat Biotechnol2021
33602693SARS-CoV-2 genomic diversity and the implications for qRT-PCR diagnostics and transmission.Genome Res2021
33712587Shotgun transcriptome, spatial omics, and isothermal profiling of SARS-CoV-2 infection reveals unique host responses, viral diversification, and drug interactions.Nat Commun2021
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Collaborators

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Co-authored papers 22
National Institute of Standards and Technology
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Baylor College of Medicine
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Feil Family Brain and Mind Research Institute.
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Baylor College of Medicine
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Roche Sequencing Solutions Inc.
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University of Southern California
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University of Texas Health Science Center at Houston
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Baylor College of Medicine
Co-authored papers 5
Stanford School of Medicine
Co-authored papers 5
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Chongqing Aier Eye Hospital
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DNAnexus Inc.
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University of Michigan School of Public Health ann arbor
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National Human Genome Research Institute, National Institutes of Health
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University of Lausanne
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