40 results on '"Rowell, William J."'
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2. Knowledge distillation for fast and accurate DNA sequence correction
3. Comprehensive de novo mutation discovery with HiFi long-read sequencing
4. DeepConsensus improves the accuracy of sequences with a gap-aware sequence transformer
5. Curated variation benchmarks for challenging medically relevant autosomal genes
6. Benchmarking challenging small variants with linked and long reads
7. Application of long-read sequencing to elucidate complex pharmacogenomic regions: a proof of principle
8. Long‐read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
9. HiPhase: jointly phasing small, structural, and tandem repeat variants from HiFi sequencing
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
13. HiPhase: Jointly phasing small and structural variants from HiFi sequencing
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
17. Sentieon DNAscope LongRead – A highly Accurate, Fast, and Efficient Pipeline for Germline Variant Calling from PacBio HiFi reads
18. Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes
19. A population of descending neurons that regulates the flight motor of Drosophila
20. Alu element in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder
21. Application of long-read sequencing to elucidate complex pharmacogenomic regions: a proof of principle
22. IGenomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes
23. DeepConsensus: Gap-Aware Sequence Transformers for Sequence Correction
24. A population of descending neurons that regulate the flight motor of Drosophila
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
29. The Landscape of SNCA Transcripts Across Synucleinopathies: New Insights From Long Reads Sequencing Analysis
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
32. Whole of Government Approach to Personnel Recovery
33. Book reviews
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
37. Immunity Regulatory DNAs Share Common Organizational Features in Drosophila
38. Crisis in Child Mental Health: Challenge for the 1970's. The Joint Commission on Mental Health for Children
39. An open forum on new directions in Clinical Child Psychology
40. A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree.
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