Evidence map›Paper›PMID 34285776›Full record

ArticleComputational and structural biotechnology journal2021

A survey of direct-to-consumer genotype data, and quality control tool (

Chang Lu, Bastian Greshake Tzovaras, Julian Gough

Abstract read
In one paragraph

Article in Computational and structural biotechnology journal, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing 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

7 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Array genotyping as diagnostic approach in medical genetics.Molecular genetics & genomic medicine · 2022
    Article
  6. Review
  7. 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

3 authors.

Chang LuMRC Laboratory of Molecular Biology, Francis Crick Avenue, Cambridge Biomedical Campus, Cambridge, UK.
Bastian Greshake TzovarasCenter for Research and Interdisciplinarity (CRI), Universite de Paris, INSERM U1284, Paris, France.
Julian GoughMRC Laboratory of Molecular Biology, Francis Crick Avenue, Cambridge Biomedical Campus, Cambridge, UK.

Funding

Medical Research Council MC_UP_1201/14
6 · The paper itself

Abstract

Two major forces have contributed to the fast growth of human genetic data. One from medical research supported by governments and academic institutes; the other from direct-to-consumer (DTC) sequencing companies. While the former benefits from meticulously designed sequencing standards and quality control procedures, the latter comes in various formats and sequencing methods which are subject to changes over time and the particular needs of different companies. Thanks to the general public who shared their DNA data without constraint, here we provide a review for over 7000 genomes made public between 2011 and 2020, and produced by over six DTC sequencing companies. An open source tool-kit to systematically parse, quality check and filter genome files and statistically problematic alleles is provided to prepare consumer DNA datasets for research. The

Indexed as

Direct-to-consumer sequencingGenotypingOpen genomePersonal genomeSNP arrays

Identifiers

PMID34285776
PMCPMC8267563

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.