Evidence map›Paper›PMID 27367164›Full record

ArticleCurrent protocols in human genetics2016

Quality Control for the Illumina HumanExome BeadChip.

Robert P Igo, Jessica N Cooke Bailey, Jane Romm, Jonathan L Haines, Janey L Wiggs

Abstract read
In one paragraph

Article in Current protocols in human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. 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.

Robert P IgoDepartment of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio.
Jessica N Cooke BaileyDepartment of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio.
Jane RommCenter for Inherited Disease Research, Johns Hopkins University, Baltimore, Maryland.
Jonathan L HainesDepartment of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio.
Janey L WiggsDepartment of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts.

Funding

The NEIGHBORHOOD: POAG Heritable Overall Operational DatabaseR01EY022305 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI WIGGS, JANEY L · 2012 to 2025
$7.9M
Genetic and Environmental Risk Factors for Exfoliation Syndrome and GlaucomaR01EY020928 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI KANG, JAE H, WIGGS, JANEY L · 2011 to 2025
$7.3M
NEI NIH HHS R01 EY020928NEI NIH HHS R01 EY022305NHLBI NIH HHS HHSN268201200008CNHLBI NIH HHS HHSN268201200008I
6 · The paper itself

Abstract

The Illumina HumanExome BeadChip and other exome-based genotyping arrays offer inexpensive genotyping of some 240,000 mostly nonsynonymous coding variants across the human genome. The HumanExome chip, with its highly non-uniform distribution of markers and emphasis on rare coding variants, presents some unique challenges for quality control (QC) and data cleaning. Here, we describe QC procedures for HumanExome data, with examples of challenges specific to exome arrays from our experience cleaning a data set of ∼7,500 samples from the NEIGHBORHOOD Consortium. We focus on standard procedures for QC of genome-wide array data including genotype calling, sex verification, sample identity verification, relationship checking, and population structure that are complicated by the HumanExome panel's enrichment in rare, exonic variation. © 2016 by John Wiley & Sons, Inc.

Indexed as

GenotypeQuality ControlExomeExome SequencingFemaleGenome, HumanHumansMalePolymorphism, Single NucleotideSex Chromosomesexome arraysgenetic association studiesIllumina HumanExome BeadChipNEIGHBORHOOD Consortiumquality control

Identifiers

PMID27367164
PMCPMC5100670

What Socratic holds

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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 Socratic graph.