Evidence map›Paper›PMID 30718733›Full record

ArticleScientific reports2019

The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.

Sanghoon Moon, Young Jin Kim, Sohee Han, Mi Yeong Hwang, Dong Mun Shin, Min Young Park, Yontao Lu, Kyungheon Yoon, Hye-Mi Jang, Yun Kyoung Kim and 5 more

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 194 papers, 20 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
194citing papers in PubMed, 20 pooled it
23.8field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

194 citing papers in PubMed, 20 syntheses or guidelines pooled it, 302 citations in OpenAlex.

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  5. Cross-phenotype association analysis of gastric cancer: in-silico functional annotation based on the disease-gene network.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2023
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134 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors at 2 institutions in 1 country.

Sanghoon MoonDivision of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, 28159, Republic of Korea.
Young Jin KimDivision of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, 28159, Republic of Korea.
Sohee HanDivision of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, 28159, Republic of Korea.
Mi Yeong HwangDivision of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, 28159, Republic of Korea.
Dong Mun ShinDivision of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, 28159, Republic of Korea.
Min Young ParkDNA link, Incorporated, Seoul, 03759, Republic of Korea.
Yontao LuAffymetrix, Inc, Santa Clara, USA.
Kyungheon YoonDivision of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, 28159, Republic of Korea.
Hye-Mi JangDivision of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, 28159, Republic of Korea.
Yun Kyoung KimDivision of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, 28159, Republic of Korea.
Tae-Joon ParkDivision of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, 28159, Republic of Korea.
Dae Sub SongDivision of Epidemiology and Health Index, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, 28159, Republic of Korea.
Jae Kyung ParkDivision of Epidemiology and Health Index, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, 28159, Republic of Korea.
Jong-Eun LeeDNA link, Incorporated, Seoul, 03759, Republic of Korea.
Bong-Jo KimDivision of Genome Research, Center for Genome Science, National Institute of Health, Chungcheongbuk-do, 28159, Republic of Korea. kbj6181@cdc.go.kr.
Korea National Institute of Health · KRDNA Link (South Korea) · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We introduce the design and implementation of a new array, the Korea Biobank Array (referred to as KoreanChip), optimized for the Korean population and demonstrate findings from GWAS of blood biochemical traits. KoreanChip comprised >833,000 markers including >247,000 rare-frequency or functional variants estimated from >2,500 sequencing data in Koreans. Of the 833 K markers, 208 K functional markers were directly genotyped. Particularly, >89 K markers were presented in East Asians. KoreanChip achieved higher imputation performance owing to the excellent genomic coverage of 95.38% for common and 73.65% for low-frequency variants. From GWAS (Genome-wide association study) using 6,949 individuals, 28 associations were successfully recapitulated. Moreover, 9 missense variants were newly identified, of which we identified new associations between a common population-specific missense variant, rs671 (p.Glu457Lys) of ALDH2, and two traits including aspartate aminotransferase (P = 5.20 × 10

Indexed as

Biological Specimen BanksGenetic VariationAdultAgedBloodGenetic LociGenome, HumanGenome-Wide Association StudyGenotypeHumansMiddle AgedMutation, MissensePolymorphism, Single NucleotideReproducibility of ResultsRepublic of Korea

Identifiers

PMID30718733
PMCPMC6361960
OpenAlexW2920792207

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.