246 results on '"Deveson, Ira W."'
Search Results
2. A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus
3. Sequencing and characterizing short tandem repeats in the human genome
4. A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
5. Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
6. A universal molecular control for DNA, mRNA and protein expression
7. Extensive DNA methylome rearrangement during early lamprey embryogenesis
8. The landscape of genomic structural variation in Indigenous Australians
9. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
10. New chromosome-scale genomes provide insights into marine adaptations of sea snakes (Hydrophis: Elapidae)
11. CAR+ and CAR− T cells share a differentiation trajectory into an NK-like subset after CD19 CAR T cell infusion in patients with B cell malignancies
12. Gene expression of male pathway genes sox9 and amh during early sex differentiation in a reptile departs from the classical amniote model
13. Flexible and efficient handling of nanopore sequencing signal data with slow5tools
14. Parallel laboratory evolution and rational debugging reveal genomic plasticity to S. cerevisiae synthetic chromosome XIV defects
15. The retroelement Lx9 puts a brake on the immune response to virus infection
16. A deep intronic variant in MME causes autosomal recessive Charcot–Marie–Tooth neuropathy through aberrant splicing
17. Fast nanopore sequencing data analysis with SLOW5
18. Sex-specific transcriptomic and epitranscriptomic signatures of PTSD-like fear acquisition
19. Library adaptors with integrated reference controls improve the accuracy and reliability of nanopore sequencing
20. Using synthetic chromosome controls to evaluate the sequencing of difficult regions within the human genome
21. Ultra-deep sequencing data from a liquid biopsy proficiency study demonstrating analytic validity
22. Interactive visualization of nanopore sequencing signal data with Squigualiser.
23. Expanded T cell clones with lymphoma driver somatic mutations in refractory celiac disease
24. Advancing NGS quality control to enable measurement of actionable mutations in circulating tumor DNA
25. Interactive visualisation of raw nanopore signal data with Squigualiser
26. Streamlining remote nanopore data access with slow5curl
27. Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions
28. Respiratory viral co-infections among SARS-CoV-2 cases confirmed by virome capture sequencing
29. An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics
30. Chimeric synthetic reference standards enable cross-validation of positive and negative controls in SARS-CoV-2 molecular tests
31. Oncogenic cooperation between TCF7-SPI1 and NRAS(G12D) requires β-catenin activity to drive T-cell acute lymphoblastic leukemia
32. HIVepsilon-seq—scalable characterization of intact persistent proviral HIV reservoirs in women
33. Use of synthetic DNA spike-in controls (sequins) for human genome sequencing
34. Analytical validity of nanopore sequencing for rapid SARS-CoV-2 genome analysis
35. Squigulator: simulation of nanopore sequencing signal data with tunable noise parameters
36. Genopo: a nanopore sequencing analysis toolkit for portable Android devices
37. A universal and independent synthetic DNA ladder for the quantitative measurement of genomic features
38. Author Correction: Diagnosis of fusion genes using targeted RNA sequencing
39. Transcriptome and Genome Analysis Uncovers aDMDStructural Variant
40. NOTCH2NLC GGCRepeat Expansion Presenting as Adult‐Onset Cervical Dystonia
41. Accelerated nanopore basecalling with SLOW5 data format
42. Simulation of nanopore sequencing signal data with tunable parameters
43. Diagnosis of fusion genes using targeted RNA sequencing
44. Chiral DNA sequences as commutable controls for clinical genomics
45. A 1000-year-old case of Klinefelter's syndrome diagnosed by integrating morphology, osteology, and genetics
46. RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.
47. Accelerated nanopore basecalling with SLOW5 data format.
48. Synthetic microbe communities provide internal reference standards for metagenome sequencing and analysis
49. Laboratory evolution and polyploid SCRaMbLE reveal genomic plasticity to synthetic chromosome defects and rearrangements
50. Flexible and efficient handling of nanopore sequencing signal data with slow5tools
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