Evidence map›Paper›PMID 36335490›Full record

ArticleMethods in molecular biology (Clifton, N.J.)2023

Targeted Locus Amplification and Haplotyping.

Juliet W Lefferts, Vera Boersma, Marne C Hagemeijer, Karima Hajo, Jeffrey M Beekman, Erik Splinter

Abstract read
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In one paragraph

Article in Methods in molecular biology (Clifton, N.J.), 2023. 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. Transgene Mapping in Animals: What to Choose?International journal of molecular sciences · 2025
    Review
  2. Tissue-Specific Regulation ofInternational journal of molecular sciences · 2023
    Review
  3. Non-invasive prenatal diagnosis (NIPD): current and emerging technologies.Extracellular vesicles and circulating nucleic acids · 2023
    Review
  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

6 authors.

Juliet W Lefferts *Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
Vera Boersma *Cergentis BV, Utrecht, The Netherlands.
Marne C HagemeijerDepartment of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
Karima HajoCergentis BV, Utrecht, The Netherlands.
Jeffrey M BeekmanDepartment of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
Erik SplinterCergentis BV, Utrecht, The Netherlands. erik.splinter@cergentis.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Targeted locus amplification (TLA) allows for the detection of all genetic variation (including structural variation) in a genomic region of interest. As TLA is based on proximity ligation, variants can be linked to each other, thereby enabling allelic phasing and the generation of haplotypes. This allows for the study of genetic variants in an allele-specific manner. Here, we provide a step-by-step protocol for TLA sample preparation and a complete bioinformatics pipeline for the allelic phasing of TLA data. Additionally, to illustrate the protocol, we show the ability of TLA to re-sequence and haplotype the complete cystic fibrosis transmembrane (CFTR) gene (> 200 kb in size) from patient-derived intestinal organoids.

Indexed as

Cystic FibrosisGenomicsAllelesHaplotypesHumansCystic fibrosisGenetic variationHaplotypingNext generation sequencingOrganoidsPhasingProximity ligationTargeted Locus Amplification (TLA)

Identifiers

PMID36335490

What OpenQuestion holds

Textmetadata
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.