Evidence map›Paper›PMID 30735756›Full record

ReviewHuman immunology2019

Tools for building, analyzing and evaluating HLA haplotypes from families.

Kazutoyo Osoegawa, Steven J Mack, Matthew Prestegaard, Marcelo A Fernández-Viña

Open access · greenAbstract readReview
In one paragraph

Review in Human immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
0.8field-weighted citation impact, top 30% 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

12 citing papers in PubMed, 20 citations in OpenAlex.

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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 at 2 institutions in 1 country.

Kazutoyo OsoegawaHistocompatibility, Immunogenetics & Disease Profiling Laboratory, Stanford Blood Center, Palo Alto, CA, USA. Electronic address: kazutoyo@stanford.edu.
Steven J MackCenter for Genetics, Children's Hospital Oakland Research Institute, Oakland, CA, USA.
Matthew PrestegaardNational Marrow Donor Program, Minneapolis, MN, USA.
Marcelo A Fernández-ViñaHistocompatibility, Immunogenetics & Disease Profiling Laboratory, Stanford Blood Center, Palo Alto, CA, USA; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.
Stanford Blood Center · USNational Marrow Donor Program · US

Funding

KIR association studies in neurological diseasesU19NS095774 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI FERNANDEZ-VINA, MARCELO, OKSENBERG, JORGE R. · 2015 to 2019
$7.0M
Integrated Exchange and Storage of Current- and Future-Generation Immunogenomic DataR01AI128775 · NIAID · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI JILL Allison HOLLENBACH, STEVEN JOHN MACK · 2017 to 2026
$4.5M
Integrated Exchange & Storage of Current and Future-Generation Immunogenomic DataR01GM109030 · NIGMS · CHILDREN'S HOSPITAL & RES CTR AT OAKLAND · PI HOLLENBACH, JILL ALLISON, MACK, STEVEN JOHN · 2014 to 2016
$919k
NIAID NIH HHS R01 AI128775NIGMS NIH HHS R01 GM109030NINDS NIH HHS U19 NS095774
6 · The paper itself

Abstract

The highly polymorphic classical human leukocyte antigen (HLA) genes display strong linkage disequilibrium (LD) that results in conserved multi-locus haplotypes. For unrelated individuals in defined populations, HLA haplotype frequencies can be estimated using the expectation-maximization (EM) method. Haplotypes can also be constructed using HLA allele segregation from nuclear families. It is straightforward to identify many HLA genotyping inconsistencies by visually reviewing HLA allele segregation in family members. It is also possible to identify potential crossover events when two or more children are available in a nuclear family. This process of visual inspection can be unwieldy, and we developed the "HaplObserve" program to standardize the process and automatically build haplotypes using family-based HLA allele segregation. HaplObserve facilitates systematically building haplotypes, and reporting potential crossover events. HLA Haplotype Validator (HLAHapV) is a program originally developed to impute chromosomal phase from genotype data using reference haplotype data. We updated and adapted HLAHapV to systematically compare observed and estimated haplotypes. We also used HLAHapV to identify haplotypes when uninformative HLA genotypes are present in families. Finally, we developed "pould", an R package that calculates haplotype frequencies, and estimates standard measures of global (locus-level) LD from both observed and estimated haplotypes.

Indexed as

SoftwareAllelesChildGene FrequencyGenetic LociHaplotypesHeterozygoteHLA AntigensHumansLinkage DisequilibriumNuclear FamilyPedigreeHLA Antigens17th International HLA and Immunogenetics WorkshopHaplotypeHLALinkage disequilibriumNext generation sequencing

Identifiers

PMID30735756
PMCPMC6682467
OpenAlexW2911289467

What OpenQuestion holds

Textmetadata
LicenceTDM
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.