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The Landscape of SNCA Transcripts Across Synucleinopathies: New Insights From Long Reads Sequencing Analysis.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00584
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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
Alu element in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder.
- Published in:
- PLoS ONE, 2021, v. 16, n. 12, p. 1, doi. 10.1371/journal.pone.0261170
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- Publication type:
- Article
HiPhase: jointly phasing small, structural, and tandem repeat variants from HiFi sequencing.
- Published in:
- Bioinformatics, 2024, v. 40, n. 2, p. 1, doi. 10.1093/bioinformatics/btae042
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- Publication type:
- Article
Making the Most of Scientific Test and Analysis Techniques.
- Published in:
- Defense Acquisition, 2020, v. 49, n. 1, p. 16
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- Publication type:
- Article
An Expert System for Scheduling Satellite Supports.
- Published in:
- Interfaces, 1988, v. 18, n. 6, p. 28, doi. 10.1287/inte.18.6.28
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- Publication type:
- Article
Structural variation and its potential impact on genome instability: Novel discoveries in the EGFR landscape by long-read sequencing.
- Published in:
- PLoS ONE, 2020, v. 15, n. 1, p. 1, doi. 10.1371/journal.pone.0226340
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- Publication type:
- Article
Applying Scientific Test and Analysis Techniques in the Agile/DevSecOps T&E Environment.
- Published in:
- ITEA Journal of Test & Evaluation, 2021, v. 42, n. 2, p. 89
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- Publication type:
- Article
Applying Scientific Test and Analysis Techniques to Defense Business Systems Test and Evaluation.
- Published in:
- ITEA Journal of Test & Evaluation, 2019, v. 40, n. 1, p. 31
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- Publication type:
- Article
Overcoming the Challenges in Test and Evaluation of Autonomous Robotic Systems.
- Published in:
- ITEA Journal of Test & Evaluation, 2018, v. 39, n. 2, p. 86
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- Publication type:
- Article
Improving the T&E Workforce's Understanding of the New Approach to Developing Warfighting System Cyber Requirements.
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- ITEA Journal of Test & Evaluation, 2017, v. 38, n. 3, p. 212
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- Publication type:
- Article
When emergency nurses should drop the log-rolling manoeuvre.
- Published in:
- 2014
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- Publication type:
- Journal Article
Haemorrhage control: lessons from the military.
- Published in:
- 2013
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- Publication type:
- Journal Article
DeepConsensus improves the accuracy of sequences with a gap-aware sequence transformer.
- Published in:
- Nature Biotechnology, 2023, v. 41, n. 2, p. 232, doi. 10.1038/s41587-022-01435-7
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- Publication type:
- Article
Curated variation benchmarks for challenging medically relevant autosomal genes.
- Published in:
- Nature Biotechnology, 2022, v. 40, n. 5, p. 672, doi. 10.1038/s41587-021-01158-1
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- Publication type:
- Article
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome.
- Published in:
- Nature Biotechnology, 2019, v. 37, n. 10, p. 1155, doi. 10.1038/s41587-019-0217-9
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- Publication type:
- Article
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38782-1
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- Publication type:
- Article
Long‐read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63522
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- Publication type:
- Article
Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long‐read sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2071, doi. 10.1002/ajmg.a.62743
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- Publication type:
- Article
Comprehensive de novo mutation discovery with HiFi long-read sequencing.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01183-6
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- Publication type:
- Article