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Your search keyword '"Rowell, William J."' showing total 40 results

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40 results on '"Rowell, William J."'

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1. Characterization and visualization of tandem repeats at genome scale

2. Knowledge distillation for fast and accurate DNA sequence correction

5. Curated variation benchmarks for challenging medically relevant autosomal genes

6. Benchmarking challenging small variants with linked and long reads

8. Long‐read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.

10. Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

11. Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

12. Resolving the unsolved: Comprehensive assessment of tandem repeats at scale

14. A diploid assembly-based benchmark for variants in the major histocompatibility complex

15. Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

16. DeepConsensus improves the accuracy of sequences with a gap-aware sequence transformer

18. Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

20. Alu element in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder

22. IGenomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

23. DeepConsensus: Gap-Aware Sequence Transformers for Sequence Correction

25. Towards a Comprehensive Variation Benchmark for Challenging Medically-Relevant Autosomal Genes

26. A population of descending neurons that regulate the flight motor of Drosophila

27. Benchmarking challenging small variants with linked and long reads

28. Structural variation and its potential impact on genome instability: Novel discoveries in the EGFR landscape by long-read sequencing

30. Abstract 1738: Characterization of structural variants within MACROD2 in the pathogenesis of colorectal cancer

31. Highly-accurate long-read sequencing improves variant detection and assembly of a human genome

34. Mushroom body output neurons encode valence and guide memory-based action selection in Drosophila

35. Author response: Mushroom body output neurons encode valence and guide memory-based action selection in Drosophila

36. Whole of Government Approach to Personnel Recovery

40. A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree.

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