6 Result(s)
within
Yumi Yamaguchi-Kabata
Microarrays
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Article
Open AccessSUGAR: graphical user interface-based data refiner for high-throughput DNA sequencing
Next-generation sequencers (NGSs) have become one of the main tools for current biology. To obtain useful insights from the NGS data, it is essential to control low-quality portions of the data affected by tec...
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Article
Open AccessValidation 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
Validation of single nucleotide variations in whole-genome sequencing is critical for studying disease-related variations in large populations. A combination of different types of next-generation sequencers fo...
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Article
Open AccessTIGAR2: sensitive and accurate estimation of transcript isoform expression with longer RNA-Seq reads
High-throughput RNA sequencing (RNA-Seq) enables quantification and identification of transcripts at single-base resolution. Recently, longer sequence reads become available thanks to the development of new ty...
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Article
Open AccessHLA-VBSeq: accurate HLA ty** at full resolution from whole-genome sequencing data
Human leucocyte antigen (HLA) genes play an important role in determining the outcome of organ transplantation and are linked to many human diseases. Because of the diversity and polymorphisms of HLA loci, HLA...
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Article
Open AccessEstimating copy numbers of alleles from population-scale high-throughput sequencing data
With the recent development of microarray and high-throughput sequencing (HTS) technologies, a number of studies have revealed catalogs of copy number variants (CNVs) and their association with phenotypes and ...
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Article
Open AccessRegional genetic differences among Japanese populations and performance of genotype imputation using whole-genome reference panel of the Tohoku Medical Megabank Project
Genotype imputation from single-nucleotide polymorphism (SNP) genotype data using a haplotype reference panel consisting of thousands of unrelated individuals from populations of interest can help to identify ...
