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1.
Progress report of the Tohoku Medical Megabank Community-Based Cohort Study: Study profile of the repeated center-based survey during second period in Miyagi Prefecture.
J Epidemiol
; 2024 Feb 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-38403692
2.
The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project.
J Hum Genet
; 67(1): 9-17, 2022 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-34234266
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30887117
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30041597
5.
Integrated analysis of human genetic association study and mouse transcriptome suggests LBH and SHF genes as novel susceptible genes for amyloid-ß accumulation in Alzheimer's disease.
Hum Genet
; 137(6-7): 521-533, 2018 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-30006735
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29192238
7.
Transcriptome analysis of distinct mouse strains reveals kinesin light chain-1 splicing as an amyloid-ß accumulation modifier.
Proc Natl Acad Sci U S A
; 111(7): 2638-43, 2014 Feb 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-24497505
8.
Selection pressure on human STR loci and its relevance in repeat expansion disease.
Mol Genet Genomics
; 291(5): 1851-69, 2016 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-27290643
9.
Estimating copy numbers of alleles from population-scale high-throughput sequencing data.
BMC Bioinformatics
; 16 Suppl 1: S4, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25707811
10.
HLA-VBSeq: accurate HLA typing at full resolution from whole-genome sequencing data.
BMC Genomics
; 16 Suppl 2: S7, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25708870
11.
SUGAR: graphical user interface-based data refiner for high-throughput DNA sequencing.
BMC Genomics
; 15: 664, 2014 Aug 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-25103311
12.
TIGAR2: sensitive and accurate estimation of transcript isoform expression with longer RNA-Seq reads.
BMC Genomics
; 15 Suppl 10: S5, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-25560536
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-25109789
14.
A statistical variant calling approach from pedigree information and local haplotyping with phase informative reads.
Bioinformatics
; 29(22): 2835-43, 2013 Nov 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-24002111
15.
Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.
PLoS Genet
; 7(6): e1002067, 2011 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-21738478
16.
Human genetic research, race, ethnicity and the labeling of populations: recommendations based on an interdisciplinary workshop in Japan.
BMC Med Ethics
; 15: 33, 2014 Apr 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-24758583
17.
A prioritization analysis of disease association by data-mining of functional annotation of human genes.
Genomics
; 99(1): 1-9, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-22019378
18.
Returning individual genomic results to population-based cohort study participants with BRCA1/2 pathogenic variants.
Breast Cancer
; 30(1): 110-120, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36161580
19.
Genetic differences in the two main groups of the Japanese population based on autosomal SNPs and haplotypes.
J Hum Genet
; 57(5): 326-34, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22456480
20.
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.
Hum Genome Var
; 9(1): 34, 2022 Sep 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-36171209