A5049397024- Genetic Associations and Epidemiology
- Mitochondrial Function and Pathology
- Nutrition, Genetics, and Disease
- Systemic Lupus Erythematosus Research
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Neuroinflammation and Neurodegeneration Mechanisms
- GABA and Rice Research
- Medical Imaging Techniques and Applications
- Cancer Genomics and Diagnostics
- Rheumatoid Arthritis Research and Therapies
- Blood disorders and treatments
- Multiple Sclerosis Research Studies
- Genetic Mapping and Diversity in Plants and Animals
- Congenital heart defects research
- Diet and metabolism studies
- Prion Diseases and Protein Misfolding
- Genetic Neurodegenerative Diseases
- Bioinformatics and Genomic Networks
- Alzheimer's disease research and treatments
- Plant Genetic and Mutation Studies
San Francisco VA Medical Center
2024
University of California, San Francisco
2024
University Hospital Kyoto Prefectural University of Medicine
2023
Kyoto Prefectural University of Medicine
2022
Kagoshima University
2014
Hitachi (United Kingdom)
2005
Whole-genome and -exome resequencing using next-generation sequencers is a powerful approach for identifying genomic variations that are associated with diseases. However, systematic strategies prioritizing causative variants from many candidates to explain the disease phenotype still far being established, because population-specific frequency spectrum of genetic variation has not been characterized. Here, we have collected exomic 1208 Japanese individuals through collaborative effort,...
A major goal of current human genome-wide studies is to identify the genetic basis complex disorders. However, availability an unbiased, reliable, cost efficient and comprehensive methodology analyze entire genome for disease association still largely lacking or problematic. Therefore, we have developed a practical strategy whole diseases by charting at 100 kb intervals using collection 27 039 microsatellites DNA pooling method in three successive genomic screens independent case–control...
Abstract Background GGC repeat expansions in NOTCH2NLC are associated with neuronal intranuclear inclusion disease. Very recently, asymptomatic carriers were reported. In these individuals, the CpG island is hypermethylated, suggesting that two factors length and DNA methylation status should be considered to evaluate pathogenicity. Long-read sequencing can used simultaneously profile genomic epigenomic alterations. We analyzed four sporadic cases expansion their phenotypically normal...
Many algorithms to detect copy number variations (CNVs) using exome sequencing (ES) data have been reported and evaluated on their sensitivity specificity, reproducibility, precision. However, operational optimization of such for a better performance has not fully addressed. ES 1199 samples including 763 patients with different disease profiles was performed. were analyzed CNVs by both the eXome Hidden Markov Model (XHMM) modified Nord's method. To efficiently rare CNVs, we aimed decrease...
Two extremely late heading mutants were induced by ion beam irradiation in rice cultivar 'Taichung 65': KGM26 and KGM27. The F2 populations from the cross between two Taichung 65 showed clear 3 early: 1 segregation, suggesting control of a recessive gene. genes identified KGM27 respectively designated as FLT1 FLT2. mapped using crosses an Indica 'Kasalath'. was located on distal end short arm chromosome 8. FLT2 around centromere 9. might share same locus EHD3 because their chromosomal...