Evidence map›Paper›PMID 32109676›Full record

ArticleiScience2020

Genotyping and Copy Number Analysis of Immunoglobin Heavy Chain Variable Genes Using Long Reads.

Michael Ford, Ehsan Haghshenas, Corey T Watson, S Cenk Sahinalp

Erratum issuedAbstract read
In one paragraph

Article in iScience, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors.

Michael FordSchool of Computing Science, Simon Fraser University, Burnaby V5A 1S6, Canada.
Ehsan HaghshenasSchool of Computing Science, Simon Fraser University, Burnaby V5A 1S6, Canada.
Corey T WatsonDepartment of Biochemistry and Molecular Genetics, University of Louisville, Louisville 40292, USA.
S Cenk SahinalpCancer Data Science Laboratory, National Cancer Institute, Bethesda, MD 20892, USA. Electronic address: cenk.sahinalp@nih.gov.

Funding

Compressive genomics for large omics data sets: Algorithms applications & toolsR01GM108348 · NIGMS · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI BERGER, BONNIE · 2013 to 2019
$2.1M
NIGMS NIH HHS R01 GM108348
6 · The paper itself

Abstract

One of the remaining challenges to describing an individual's genetic variation lies in the highly heterogeneous and complex genomic regions that impede the use of classical reference-guided mapping and assembly approaches. Once such region is the Immunoglobulin heavy chain locus (IGH), which is critical for the development of antibodies and the adaptive immune system. We describe ImmunoTyper, the first PacBio-based genotyping and copy number calling tool specifically designed for IGH V genes (IGHV). We demonstrate that ImmunoTyper's multi-stage clustering and combinatorial optimization approach represents the most comprehensive IGHV genotyping approach published to date, through validation using gold-standard IGH reference sequence. This preliminary work establishes the feasibility of fine-grained genotype and copy number analysis using error-prone long reads in complex multi-gene loci and opens the door for in-depth investigation into IGHV heterogeneity using accessible and increasingly common whole-genome sequence.

Indexed as

BioinformaticsBiological SciencesComputational BioinformaticsGenomic Analysis

Identifiers

PMID32109676
PMCPMC7044747

What OpenQuestion holds

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LicenceCC BY-NC-ND
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.