320 results on '"Eberle, Michael A."'
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2. A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus
3. Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications
4. Von „veniunt“ zu „eamus“
5. Recurrent repeat expansions in human cancer genomes
6. Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
7. Best practices for benchmarking germline small-variant calls in human genomes
8. REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats
9. Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson’s disease-associated GBA gene
10. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
11. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
12. Analysis and benchmarking of small and large genomic variants across tandem repeats
13. Closing the gap: Solving complex medically relevant genes at scale
14. Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data
15. Publisher Correction: Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data
16. RFC1repeat expansion analysis from whole genome sequencing data simplifies screening and increases diagnostic rates
17. HiPhase: jointly phasing small, structural, and tandem repeat variants from HiFi sequencing
18. Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions
19. Repeat expansions confer WRN dependence in microsatellite-unstable cancers
20. Genome-wide detection of tandem DNA repeats that are expanded in autism
21. Benchmarking of small and large variants across tandem repeats
22. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
23. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14
24. Large scale in silico characterization of repeat expansion variation in human genomes
25. ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data
26. Paragraph: a graph-based structural variant genotyper for short-read sequence data
27. P819: Genome-wide resolution of highly homologous genes using long-read PacBio HiFi sequencing*
28. P600: pb-StarPhase: A phase-aware pharmacogenomic diplotyper for long-read sequencing data
29. O36: Long-read genome sequencing in unsolved rare genetic diseases: Preliminary experiences from the Care4Rare Canada Consortium
30. P293: Long read sequencing analysis of 120 samples with known and challenging-to-detect clinical variants
31. Allele Frequency Matching Between SNPs Reveals an Excess of Linkage Disequilibrium in Genic Regions of the Human Genome
32. Population History and Natural Selection Shape Patterns of Genetic Variation in 132 Genes
33. A common flanking variant is associated with enhanced meiotic stability of theFGF14-SCA27B locus
34. Resolving the unsolved: Comprehensive assessment of tandem repeats at scale
35. Enabling End-Users in Designing and Executing of Complex, Collaborative Robotic Processes
36. HiPhase: Jointly phasing small and structural variants from HiFi sequencing
37. Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk
38. Abstract LB078: pbfusion: Detecting gene-fusion and other transcriptional abnormalities using PacBio HiFi data
39. Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing
40. Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing
41. P146: Complete resolution of genes with highly homologous gene family members or pseudogenes using long-read PacBio HiFi sequencing*
42. Recurrent repeat expansions in human cancer genomes
43. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14
44. A novel intronic GAA repeat expansion inFGF14causes autosomal dominant adult-onset ataxia (SCA50, ATX-FGF14)
45. A genome-wide atlas of recurrent repeat expansions in human cancer
46. Abstract 55: A genome-wide atlas of recurrent repeat expansions in human cancer genomes
47. Whole-genome haplotyping by dilution, amplification, and sequencing
48. Author Correction: Best practices for benchmarking germline small-variant calls in human genomes
49. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
50. Enabling rapid genome-wide STR catalog genotyping and complex motif analysis in ExpansionHunter
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