20 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. Recurrent repeat expansions in human cancer genomes
5. REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats
6. Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson’s disease-associated GBA gene
7. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
8. Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data
9. Publisher Correction: Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data
10. Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions
11. Repeat expansions confer WRN dependence in microsatellite-unstable cancers
12. Genome-wide detection of tandem DNA repeats that are expanded in autism
13. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
14. Best practices for benchmarking germline small-variant calls in human genomes
15. Large scale in silico characterization of repeat expansion variation in human genomes
16. ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data
17. Paragraph: a graph-based structural variant genotyper for short-read sequence data
18. Author Correction: Best practices for benchmarking germline small-variant calls in human genomes
19. Sequence diversity, natural selection and linkage disequilibrium in the human T cell receptor alpha/delta locus
20. Improved Imputation of Common and Uncommon Single Nucleotide Polymorphisms (SNPs) with a New Reference Set
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