(Q28607995)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

main subject

whole genome sequencing

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Hideyasu Kiyomoto

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

23

Atsushi Hozawa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

28

Nobuo Yaegashi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

author name string

Masao Nagasaki

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Fumiki Katsuoka

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Naoki Nariai

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Kaname Kojima

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Yosuke Kawai

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Yumi Yamaguchi-Kabata

7

1 reference

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22 February 2020

Junji Yokozawa

8

1 reference

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22 February 2020

Inaho Danjoh

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Sakae Saito

10

1 reference

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22 February 2020

Yukuto Sato

11

1 reference

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22 February 2020

Takahiro Mimori

12

1 reference

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22 February 2020

Kaoru Tsuda

13

1 reference

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22 February 2020

Rumiko Saito

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Xiaoqing Pan

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Satoshi Nishikawa

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Shin Ito

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Yoko Kuroki

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Osamu Tanabe

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Nobuo Fuse

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Shinichi Kuriyama

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Naoko Minegishi

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

James Douglas Engel

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Kengo Kinoshita

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Shigeo Kure

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Masayuki Yamamoto

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

ToMMo Japanese Reference Panel Project

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

language of work or name

English

0 references

publication date

21 August 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

published in

Nature Communications

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

page(s)

8018

1 reference

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Creative Commons Attribution 4.0 International

22 February 2020

copyright license

start time

21 August 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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17 March 2017

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17 March 2017

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Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development

17 March 2017

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17 March 2017

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Functional impact of global rare copy number variation in autism spectrum disorders

17 March 2017

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Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data

17 March 2017

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Finding the missing heritability of complex diseases

17 March 2017

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Fast and accurate short read alignment with Burrows-Wheeler transform

17 March 2017

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Large recurrent microdeletions associated with schizophrenia

17 March 2017

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Diet and the evolution of human amylase gene copy number variation

17 March 2017

1 reference

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Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

17 March 2017

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Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

17 March 2017

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17 March 2017

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Initial sequencing and analysis of the human genome

17 March 2017

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Molecular genetic analysis of the human Lewis histo-blood group system. II. Secretor gene inactivation by a novel single missense mutation A385T in Japanese nonsecretor individuals

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

The human alpha-amylase multigene family consists of haplotypes with variable numbers of genes

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

CNVs conferring risk of autism or schizophrenia affect cognition in controls

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Integrative annotation of human large intergenic noncoding RNAs reveals global properties and specific subclasses

7 April 2017

1 reference

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

7 April 2017

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Integrating common and rare genetic variation in diverse human populations

7 April 2017

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A general framework for estimating the relative pathogenicity of human genetic variants

7 April 2017

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On the allelic spectrum of human disease

7 April 2017

1 reference

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Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

7 April 2017

1 reference

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Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals

7 April 2017

1 reference

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Large-scale whole-genome sequencing of the Icelandic population

29 September 2017

1 reference

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HLA-VBSeq: accurate HLA typing at full resolution from whole-genome sequencing data.

29 September 2017

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Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

29 September 2017

1 reference

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An efficient quantitation method of next-generation sequencing libraries by using MiSeq sequencer.

29 September 2017

1 reference

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SUGAR: graphical user interface-based data refiner for high-throughput DNA sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Distribution and medical impact of loss-of-function variants in the Finnish founder population

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Donor-recipient allele-level HLA matching of unrelated cord blood units reveals high degrees of mismatch and alters graft selection.

29 September 2017

1 reference

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Whole-genome sequence variation, population structure and demographic history of the Dutch population

29 September 2017

1 reference

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Toward better understanding of artifacts in variant calling from high-coverage samples

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Genome sequencing identifies major causes of severe intellectual disability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

iSVP: an integrated structural variant calling pipeline from high-throughput sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Estimating the heritability of colorectal cancer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Sequencing depth and coverage: key considerations in genomic analyses

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Long insert whole genome sequencing for copy number variant and translocation detection

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Deep whole-genome sequencing of 100 southeast Asian Malays

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Unsupervised pattern discovery in human chromatin structure through genomic segmentation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

ChromHMM: automating chromatin-state discovery and characterization

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

The HLA genomic loci map: expression, interaction, diversity and disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Challenges and standards in integrating surveys of structural variation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

High-throughput DNA typing of HLA-A, -B, -C, and -DRB1 loci by a PCR-SSOP-Luminex method in the Japanese population.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Simultaneous inference of selection and population growth from patterns of variation in the human genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Reconstituting the frequency spectrum of ascertained single-nucleotide polymorphism data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Estimation of linkage between the Lutheran and the Lewis blood groups

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

The human gene mutation database

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Immunobiological determinants in organ transplantation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and α fetoprotein and their associations with cancer risk

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Improved whole-chromosome phasing for disease and population genetic studies

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

27 November 2018

The IMGT/HLA database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Birth prevalence of disorders detectable through newborn screening by race/ethnicity.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Heritability and familiality of type 2 diabetes and related quantitative traits in the Botnia Study

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Newborn screening in Japan: restructuring for the new era.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560751

Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26292667

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NCOMMS9018

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

22 February 2020

ADS bibcode

2015NatCo...6.8018.

0 references

1029523624

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26292667%20AND%20SRC:MED&resulttype=core&format=json