Detalhe da pesquisa
1.
jMorp: Japanese Multi-Omics Reference Panel update report 2023.
Nucleic Acids Res
; 52(D1): D622-D632, 2024 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37930845
2.
A genotype imputation method for de-identified haplotype reference information by using recurrent neural network.
PLoS Comput Biol
; 16(10): e1008207, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33001993
3.
Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population.
Hum Mol Genet
; 26(3): 650-659, 2017 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28062665
4.
Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals.
Hum Genet
; 138(4): 389-409, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30887117
5.
Strong Association of the HLA-DR/DQ Locus with Childhood Steroid-Sensitive Nephrotic Syndrome in the Japanese Population.
J Am Soc Nephrol
; 29(8): 2189-2199, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30012571
6.
Identification of somatic genetic alterations in ovarian clear cell carcinoma with next generation sequencing.
Genes Chromosomes Cancer
; 57(2): 51-60, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29044863
7.
Regional genetic differences among Japanese populations and performance of genotype imputation using whole-genome reference panel of the Tohoku Medical Megabank Project.
BMC Genomics
; 19(1): 551, 2018 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-30041597
8.
Genome-Wide Association Study Identifies TLL1 Variant Associated With Development of Hepatocellular Carcinoma After Eradication of Hepatitis C Virus Infection.
Gastroenterology
; 152(6): 1383-1394, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28163062
9.
Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.
J Hum Genet
; 63(2): 213-230, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29192238
10.
Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens-Johnson syndrome with severe ocular complications.
J Hum Genet
; 62(4): 485-489, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28100913
11.
A Bayesian approach for estimating allele-specific expression from RNA-Seq data with diploid genomes.
BMC Genomics
; 17 Suppl 1: 2, 2016 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26818838
12.
STR-realigner: a realignment method for short tandem repeat regions.
BMC Genomics
; 17(1): 991, 2016 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27912743
13.
Short tandem repeat number estimation from paired-end reads for multiple individuals by considering coalescent tree.
BMC Genomics
; 17 Suppl 5: 494, 2016 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-27586631
14.
AP-SKAT: highly-efficient genome-wide rare variant association test.
BMC Genomics
; 17(1): 745, 2016 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27654840
15.
Estimating copy numbers of alleles from population-scale high-throughput sequencing data.
BMC Bioinformatics
; 16 Suppl 1: S4, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25707811
16.
HLA-VBSeq: accurate HLA typing at full resolution from whole-genome sequencing data.
BMC Genomics
; 16 Suppl 2: S7, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25708870
17.
Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals.
J Hum Genet
; 60(10): 581-7, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26108142
18.
SUGAR: graphical user interface-based data refiner for high-throughput DNA sequencing.
BMC Genomics
; 15: 664, 2014 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25103311
19.
TIGAR2: sensitive and accurate estimation of transcript isoform expression with longer RNA-Seq reads.
BMC Genomics
; 15 Suppl 10: S5, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25560536
20.
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.
BMC Genomics
; 15: 673, 2014 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-25109789