173 results on '"Yamaguchi-Kabata, Yumi"'
Search Results
2. Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals
3. The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project
4. Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals
5. Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals
6. Integrated analysis of human genetic association study and mouse transcriptome suggests LBH and SHF genes as novel susceptible genes for amyloid-β accumulation in Alzheimer’s disease
7. Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals
8. HapMonster: A Statistically Unified Approach for Variant Calling and Haplotyping Based on Phase-Informative Reads
9. SVEM: A Structural Variant Estimation Method Using Multi-mapped Reads on Breakpoints
10. Loss of CAPS2/Cadps2 leads to exocrine pancreatic cell injury and intracellular accumulation of secretory granules in mice
11. Returning individual genomic results to population-based cohort study participants with BRCA1/2 pathogenic variants
12. Transcriptome analysis of distinct mouse strains reveals kinesin light chain-1 splicing as an amyloid-β accumulation modifier
13. Regional genetic differences among Japanese populations and performance of genotype imputation using whole-genome reference panel of the Tohoku Medical Megabank Project
14. Selection pressure on human STR loci and its relevance in repeat expansion disease
15. SVEM: A Structural Variant Estimation Method Using Multi-mapped Reads on Breakpoints
16. HapMonster: A Statistically Unified Approach for Variant Calling and Haplotyping Based on Phase-Informative Reads
17. The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project
18. Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies
19. Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2)
20. Linkage of Amino Acid Variation and Evolution of Human Immunodeficiency Virus Type 1 gp120 Envelope Glycoprotein (Subtype B) with Usage of the Second Receptor
21. A statistical variant calling approach from pedigree information and local haplotyping with phase informative reads
22. Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes in a 3,552 Japanese whole-genome sequence dataset (3.5KJPNv2)
23. VarySysDB: a human genetic polymorphism database based on all H-InvDB transcripts
24. The H-Invitational Database (H-InvDB), a comprehensive annotation resource for human genes and transcripts*
25. Natural infection of chimpanzees with new lentiviruses related to HIV-1/SIV cpz
26. Additional file 2: of Regional genetic differences among Japanese populations and performance of genotype imputation using whole-genome reference panel of the Tohoku Medical Megabank Project
27. Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare.
28. The structural origin of metabolic quantitative diversity
29. Corticotropin-Releasing Hormone Receptor 2 Gene Variants in Irritable Bowel Syndrome
30. iJGVD: an integrative Japanese genome variation database based on whole-genome sequencing
31. Estimating copy numbers of alleles from population-scale high-throughput sequencing data
32. HLA-VBSeq: accurate HLA typing at full resolution from whole-genome sequencing data
33. Human genetic research, race, ethnicity and the labeling of populations: recommendations based on an interdisciplinary workshop in Japan.
34. Human genetic research, race, ethnicity and the labeling of populations: recommendations based on an interdisciplinary workshop in Japan
35. TIGAR2: sensitive and accurate estimation of transcript isoform expression with longer RNA-Seq reads
36. Integrative annotation of 21,037 human genes validated by full-length cDNA clones
37. Validation of multiple single nucleotide variation calls by additional exome analysis with a semiconductor sequencer to supplement data of whole-genome sequencing of a human population
38. SUGAR: graphical user interface-based data refiner for high-throughput DNA sequencing
39. Human genetic research, race, ethnicity and the labeling of populations: recommendations based on an interdisciplinary workshop in Japan
40. iSVP: an integrated structural variant calling pipeline from high-throughput sequencing data
41. A prioritization analysis of disease association by data-mining of functional annotation of human genes
42. Investigation of protein functions through data-mining on integrated human transcriptome database, H-Invitational database (H-InvDB)
43. Prediction of Protein-Destabilizing Polymorphisms by Manual Curation with Protein Structure
44. Genetic differences in the two main groups of the Japanese population based on autosomal SNPs and haplotypes
45. A prioritization analysis of disease association by data-mining of functional annotation of human genes
46. Integrative annotation of 21,037 human genes validated by full-length cDNA clones
47. Identification of Nine Novel Loci Associated with White Blood Cell Subtypes in a Japanese Population
48. Establishment of a standardized system to perform population structure analyses with limited sample size or with different sets of SNP genotypes
49. Making a haplotype catalog with estimated frequencies based on SNP homozygotes
50. Distribution and Effects of Nonsense Polymorphisms in Human Genes
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