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Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing.
- Published in:
- NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00749-4
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- Publication type:
- Article
Unveiling novel genetic variants in 370 challenging medically relevant genes using the long read sequencing data of 41 samples from 19 global populations.
- Published in:
- Molecular Genetics & Genomics, 2024, v. 299, n. 1, p. 1, doi. 10.1007/s00438-024-02158-x
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- Publication type:
- Article
MethPhaser: methylation-based long-read haplotype phasing of human genomes.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49588-0
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- Publication type:
- Article
MethPhaser: methylation-based long-read haplotype phasing of human genomes.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49588-0
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- Publication type:
- Article
Profiling complex repeat expansions in RFC1 in Parkinson's disease.
- Published in:
- NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00723-0
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- Publication type:
- Article
De Novo Genome Assembly for the Coppery Titi Monkey (Plecturocebus cupreus): An Emerging Nonhuman Primate Model for Behavioral Research.
- Published in:
- Genome Biology & Evolution, 2024, v. 16, n. 5, p. 1, doi. 10.1093/gbe/evae108
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- Publication type:
- Article
The history of star-forming regions in the tails of six GASP jellyfish galaxies observed with the Hubble Space Telescope.
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- Astronomy & Astrophysics / Astronomie et Astrophysique, 2024, v. 682, p. 1, doi. 10.1051/0004-6361/202348055
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- Publication type:
- Article
Inference of phylogenetic trees directly from raw sequencing reads using Read2Tree.
- Published in:
- Nature Biotechnology, 2024, v. 42, n. 1, p. 139, doi. 10.1038/s41587-023-01753-4
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- Publication type:
- Article
Association Analysis of Common Structural Variants in the Alzheimer's Disease Sequencing Project.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.078821
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- Publication type:
- Article
Association Analysis of Common Structural Variants in the Alzheimer's Disease Sequencing Project.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.078821
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- Publication type:
- Article
Schockraumpatienten vor und während der COVID-19-Pandemie: Daten eines alpinen Traumazentrums.
- Published in:
- Die Unfallchirurgie, 2023, v. 126, n. 12, p. 960, doi. 10.1007/s00113-022-01268-8
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- Publication type:
- Article
Genomic variant benchmark: if you cannot measure it, you cannot improve it.
- Published in:
- Genome Biology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s13059-023-03061-1
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- Publication type:
- Article
The Ethics of Virtual and Augmented Reality: Building Worlds, written by Erick Jose Ramirez.
- Published in:
- 2023
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- Publication type:
- Book Review
Magnetic resonance imaging at 9.4 T: the Maastricht journey.
- Published in:
- MAGMA: Magnetic Resonance Materials in Physics, Biology & Medicine, 2023, v. 36, n. 2, p. 159, doi. 10.1007/s10334-023-01080-4
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- Publication type:
- Article
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 794, doi. 10.1002/ajmg.a.63080
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- Publication type:
- Article
FixItFelix: improving genomic analysis by fixing reference errors.
- Published in:
- Genome Biology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s13059-023-02863-7
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- Publication type:
- Article
Temporal and Spatial Gene Expression Profile of Stroke Recovery Genes in Mice.
- Published in:
- Genes, 2023, v. 14, n. 2, p. 454, doi. 10.3390/genes14020454
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- Publication type:
- Article
SVhound: detection of regions that harbor yet undetected structural variation.
- Published in:
- BMC Bioinformatics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12859-022-05046-6
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- Publication type:
- Article
xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments.
- Published in:
- GigaScience, 2023, v. 12, n. 1, p. 1, doi. 10.1093/gigascience/giac125
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- Publication type:
- Article
Truvari: refined structural variant comparison preserves allelic diversity.
- Published in:
- Genome Biology, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s13059-022-02840-6
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- Publication type:
- Article
Frequent spontaneous structural rearrangements promote rapid genome diversification in a Brassica napus F1 generation.
- Published in:
- Frontiers in Plant Science, 2022, v. 13, p. 1, doi. 10.3389/fpls.2022.1057953
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- Publication type:
- Article
Towards accurate and reliable resolution of structural variants for clinical diagnosis.
- Published in:
- Genome Biology, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s13059-022-02636-8
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- Publication type:
- Article
Author Correction: Towards accurate and reliable resolution of structural variants for clinical diagnosis.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Multiple genome alignment in the telomere-to-telomere assembly era.
- Published in:
- Genome Biology, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s13059-022-02735-6
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- Publication type:
- Article
Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson's disease-associated GBA gene.
- Published in:
- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03610-7
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- Publication type:
- Article
BUDA‐MESMERISE: Rapid acquisition and unsupervised parameter estimation for T<sub>1</sub>, T<sub>2</sub>, M<sub>0</sub>, B<sub>0</sub>, and B<sub>1</sub> maps.
- Published in:
- Magnetic Resonance in Medicine, 2022, v. 88, n. 1, p. 292, doi. 10.1002/mrm.29228
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- Publication type:
- Article
Rescuing low frequency variants within intra-host viral populations directly from Oxford Nanopore sequencing data.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-28852-1
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- Publication type:
- Article
Towards accurate and reliable resolution of structural variants for clinical diagnosis.
- Published in:
- Genome Biology, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s13059-022-02636-8
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- Publication type:
- Article
Assessing reproducibility of inherited variants detected with short-read whole genome sequencing.
- Published in:
- Genome Biology, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s13059-021-02569-8
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- Publication type:
- Article
Evolved resistance to a novel cationic peptide antibiotic requires high mutation supply.
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- Evolution, Medicine & Public Health, 2022, v. 10, n. 1, p. 266, doi. 10.1093/emph/eoac022
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- Publication type:
- Article
Construction of a new chromosome-scale, long-read reference genome assembly for the Syrian hamster, Mesocricetus auratus.
- Published in:
- GigaScience, 2022, v. 11, p. 1, doi. 10.1093/gigascience/giac039
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- Publication type:
- Article
Hidden biases in germline structural variant detection.
- Published in:
- Genome Biology, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13059-021-02558-x
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- Publication type:
- Article
High resolution copy number inference in cancer using short-molecule nanopore sequencing.
- Published in:
- Nucleic Acids Research, 2021, v. 49, n. 21, p. e124, doi. 10.1093/nar/gkab812
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- Publication type:
- Article
Corrigendum: The Influence of Radio-Frequency Transmit Field Inhomogeneities on the Accuracy of G-ratio Weighted Imaging.
- Published in:
- 2021
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- Publication type:
- Correction Notice
PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation.
- Published in:
- Genome Biology, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13059-021-02486-w
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- Publication type:
- Article
Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment.
- Published in:
- GigaScience, 2021, v. 10, n. 9, p. 1, doi. 10.1093/gigascience/giab063
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- Publication type:
- Article
Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals.
- Published in:
- PLoS ONE, 2021, v. 16, n. 8, p. 1, doi. 10.1371/journal.pone.0244468
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- Publication type:
- Article
The Influence of Radio-Frequency Transmit Field Inhomogeneities on the Accuracy of G-ratio Weighted Imaging.
- Published in:
- Frontiers in Neuroscience, 2021, v. 15, p. 1, doi. 10.3389/fnins.2021.674719
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- Publication type:
- Article
Association of mitochondrial DNA copy number with metabolic syndrome and type 2 diabetes in 14 176 individuals.
- Published in:
- Journal of Internal Medicine, 2021, v. 290, n. 1, p. 190, doi. 10.1111/joim.13242
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- Publication type:
- Article
Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease.
- Published in:
- Movement Disorders, 2021, v. 36, n. 6, p. 1456, doi. 10.1002/mds.28616
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- Publication type:
- Article
Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease.
- Published in:
- 2021
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- Publication type:
- journal article
Author Correction: Discovery and population genomics of structural variation in a songbird genus.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Shotgun transcriptome, spatial omics, and isothermal profiling of SARS-CoV-2 infection reveals unique host responses, viral diversification, and drug interactions.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21361-7
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- Publication type:
- Article
Chromosome-scale, haplotype-resolved assembly of human genomes.
- Published in:
- Nature Biotechnology, 2021, v. 39, n. 3, p. 309, doi. 10.1038/s41587-020-0711-0
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- Publication type:
- Article
Pest Management Needs and Limitations for Corn Earworm (Lepidoptera: Noctuidae), an Emergent Key Pest of Hemp in the United States.
- Published in:
- Journal of Integrated Pest Management, 2021, v. 12, n. 1, p. 1, doi. 10.1093/jipm/pmab030
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- Publication type:
- Article
Parliament2: Accurate structural variant calling at scale.
- Published in:
- GigaScience, 2020, v. 9, n. 12, p. 1, doi. 10.1093/gigascience/giaa145
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- Publication type:
- Article
Helical computed tomographic-dacryocystography in adult pet dwarf rabbits: procedure and normal appearance.
- Published in:
- Vlaams Diergeneeskundig Tijdschrift, 2020, v. 89, n. 6, p. 299, doi. 10.21825/vdt.v89i6.17412
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- Article
RUNX1 and RUNX2 transcription factors function in opposing roles to regulate breast cancer stem cells.
- Published in:
- Journal of Cellular Physiology, 2020, v. 235, n. 10, p. 7261, doi. 10.1002/jcp.29625
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- Publication type:
- Article
A diploid assembly-based benchmark for variants in the major histocompatibility complex.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-18564-9
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- Publication type:
- Article
Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes.
- Published in:
- Nature Biotechnology, 2020, v. 38, n. 9, p. 1044, doi. 10.1038/s41587-020-0503-6
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- Publication type:
- Article