Evidence map›Paper›PMID 27274952›Full record

ArticleMolecular biology (Los Angeles, Calif.)2015

References for Haplotype Imputation in the Big Data Era.

Wenzhi Li, Wei Xu, Qiling Li, Li Ma, Qing Song

Abstract read
In one paragraph

Article in Molecular biology (Los Angeles, Calif.), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Article
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

5 authors.

Wenzhi LiCenter of Big Data and Bioinformatics, First Affiliated Hospital of Medicine School, Xi'an Jiaotong University, Xi'an, Shaanxi, China; Cardiovascular Research Institute and Department of Medicine, Morehouse School of Medicine, Atlanta, Georgia, USA.
Wei XuCenter of Big Data and Bioinformatics, First Affiliated Hospital of Medicine School, Xi'an Jiaotong University, Xi'an, Shaanxi, China; Cardiovascular Research Institute and Department of Medicine, Morehouse School of Medicine, Atlanta, Georgia, USA.
Qiling LiCenter of Big Data and Bioinformatics, First Affiliated Hospital of Medicine School, Xi'an Jiaotong University, Xi'an, Shaanxi, China.
Li MaCardiovascular Research Institute and Department of Medicine, Morehouse School of Medicine, Atlanta, Georgia, USA; 4DGenome Inc, Atlanta, Georgia, USA.
Qing SongCenter of Big Data and Bioinformatics, First Affiliated Hospital of Medicine School, Xi'an Jiaotong University, Xi'an, Shaanxi, China; Cardiovascular Research Institute and Department of Medicine, Morehouse School of Medicine, Atlanta, Georgia, USA; 4DGenome Inc, Atlanta, Georgia, USA.

Funding

Morehouse School of Medicine Center of Excellence Research Endowment ProgramS21MD000101 · NIMHD · MOREHOUSE SCHOOL OF MEDICINE · PI MONTGOMERY-RICE, VALERIE C. · 2001 to 2015
$74.3M
Training the Trainers: Building Institutional Data Science Capacity to Support Health Disparities ResearchU54MD007602 · NIMHD · MOREHOUSE SCHOOL OF MEDICINE · PI Kevin Sean Kimbro · 2018 to 2026
$47.6M
TRANSCRIPTION FACTORS AND PROSTATE CANCERG12RR003034 · NCRR · MOREHOUSE SCHOOL OF MEDICINE · PI ZHAO, XUEYING · 1986 to 2011
$32.4M
Research Desogn and Biostatistics CoreU54MD007588 · NIMHD · MOREHOUSE SCHOOL OF MEDICINE · PI MAYBERRY, ROBERT M · 2012 to 2018
$24.8M
TRANSPLANTATION OF EXOSOMES FROM HYPOXIA-PRECONDITIONED ADIPOSE-DERIVED STEM CELLS PROMOTES ANGIOGENESIS IN ISCHEMIC HEARTG12MD007602 · NIMHD · MOREHOUSE SCHOOL OF MEDICINE · PI BOND, VINCENT C · 2012 to 2017
$18.4M
Minority Health-GRID Network: A Genomics Resource for Health Disparity ResearchRC4MD005964 · NIMHD · MOREHOUSE SCHOOL OF MEDICINE · PI DAVIS, ROBERT LOWELL, NICKERSON, DEBORAH A · 2010 to 2010
$13.3M
Morehouse Cardiovascular Research Center of ExcellenceP50HL117929 · NHLBI · MOREHOUSE SCHOOL OF MEDICINE · PI TAYLOR, HERMAN ALFRED · 2013 to 2018
$6.7M
Determining the Phased Genome SequencesR21HG006173 · NHGRI · MOREHOUSE SCHOOL OF MEDICINE · PI SONG, QING · 2012 to 2013
$389k
Cost-effective and high-throughput chromosomal haplotypingR43HG007621 · NHGRI · 4DGENOME, INC. · PI SONG, QING · 2014 to 2014
$219k
NCRR NIH HHS G12 RR003034NHGRI NIH HHS R21 HG006173NHGRI NIH HHS R43 HG007621NHLBI NIH HHS P50 HL117929NIMHD NIH HHS G12 MD007602NIMHD NIH HHS RC4 MD005964NIMHD NIH HHS S21 MD000101NIMHD NIH HHS U54 MD007588NIMHD NIH HHS U54 MD007602
6 · The paper itself

Abstract

Imputation is a powerful in silico approach to fill in those missing values in the big datasets. This process requires a reference panel, which is a collection of big data from which the missing information can be extracted and imputed. Haplotype imputation requires ethnicity-matched references; a mismatched reference panel will significantly reduce the quality of imputation. However, currently existing big datasets cover only a small number of ethnicities, there is a lack of ethnicity-matched references for many ethnic populations in the world, which has hampered the data imputation of haplotypes and its downstream applications. To solve this issue, several approaches have been proposed and explored, including the mixed reference panel, the internal reference panel and genotype-converted reference panel. This review article provides the information and comparison between these approaches. Increasing evidence showed that not just one or two genetic elements dictate the gene activity and functions; instead, cis-interactions of multiple elements dictate gene activity. Cis-interactions require the interacting elements to be on the same chromosome molecule, therefore, haplotype analysis is essential for the investigation of cis-interactions among multiple genetic variants at different loci, and appears to be especially important for studying the common diseases. It will be valuable in a wide spectrum of applications from academic research, to clinical diagnosis, prevention, treatment, and pharmaceutical industry.

Indexed as

HaplotypesImputationReferences

Identifiers

PMID27274952
PMCPMC4888899

What OpenQuestion holds

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LicenceCC BY
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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.