Evidence map›Paper›PMID 35251117›Full record

ArticleFrontiers in genetics2021

Ultra Low-Coverage Whole-Genome Sequencing as an Alternative to Genotyping Arrays in Genome-Wide Association Studies.

Vylyny Chat, Robert Ferguson, Leah Morales, Tomas Kirchhoff

Abstract read
In one paragraph

Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 2 pooled it
–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

20 citing papers in PubMed, 2 syntheses or guidelines pooled it.

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  19. Unraveling the genetic architecture of asthma.Annals of translational medicine · 2022
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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

4 authors.

Vylyny ChatPerlmutter Cancer Center, New York University School of Medicine, New York, NY, United States.
Robert FergusonPerlmutter Cancer Center, New York University School of Medicine, New York, NY, United States.
Leah MoralesPerlmutter Cancer Center, New York University School of Medicine, New York, NY, United States.
Tomas KirchhoffPerlmutter Cancer Center, New York University School of Medicine, New York, NY, United States.

Funding

Project 4P50CA225450 · NCI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI OSMAN, IMAN, WEBER, JEFFREY S · 2019 to 2025
$12.5M
(8) Genomic determinants of the T-cell regulome in immune checkpoint blockadeR01CA227505 · NCI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI KIRCHHOFF, TOMAS, WEBER, JEFFREY S · 2018 to 2022
$3.0M
NCI NIH HHS P50 CA225450NCI NIH HHS R01 CA227505
6 · The paper itself

Abstract

An array-based genotyping approach has been the standard practice for genome-wide association studies (GWASs); however, as sequencing costs plummet over the past years, ultra low-coverage whole-genome sequencing (ulcWGS <0.5× coverage) has emerged as a promising alternative that provides superior genomic coverage with substantial reduction of genotyping cost. To evaluate the potential utility of ulcWGS, we performed a whole-genome sequencing (WGS) of 72 European individuals to a target coverage of 0.4× and compared its performance with the widely used Infinium Global Screening Multi-Disease Array (GSA-MD). We showed that the number of variants captured by ulcWGS is comparable with imputed GSA-MD platform, particularly for low-frequency (95.5%) and common variants (99.9%), with high imputation R

Indexed as

genome-wide association study (GWAS)genomic assay comparisonillumina global screening arraynext-generation sequencing (NGS)ultra low-coverage whole-genome sequencing (ulcWGS)

Identifiers

PMID35251117
PMCPMC8889143

What OpenQuestion holds

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Registered trials

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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.