Evidence map›Paper›PMID 37923981›Full record

ArticleBMC bioinformatics2023

Estimating microhaplotype allele frequencies from low-coverage or pooled sequencing data.

Thomas A Delomas, Stuart C Willis

Abstract read
In one paragraph

Article in BMC bioinformatics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

2 authors.

Thomas A DelomasAgricultural Research Service, United States Department of Agriculture, National Cold Water Marine Aquaculture Center, 483 CBLS, 120 Flagg Road, Kingston, RI, 02881, USA. thomas.delomas@usda.gov.
Stuart C WillisHagerman Genetics Laboratory, Columbia River Inter-Tribal Fish Commission, Hagerman, ID, USA.

Funding

Agricultural Research Service 8030-31000-005-000-D
6 · The paper itself

Abstract

backgroundMicrohaplotypes have the potential to be more cost-effective than SNPs for applications that require genetic panels of highly variable loci. However, development of microhaplotype panels is hindered by a lack of methods for estimating microhaplotype allele frequency from low-coverage whole genome sequencing or pooled sequencing (pool-seq) data.

resultsWe developed new methods for estimating microhaplotype allele frequency from low-coverage whole genome sequence and pool-seq data. We validated these methods using datasets from three non-model organisms. These methods allowed estimation of allele frequency and expected heterozygosity at depths routinely achieved from pooled sequencing.

conclusionsThese new methods will allow microhaplotype panels to be designed using low-coverage WGS and pool-seq data to discover and evaluate candidate loci. The python script implementing the two methods and documentation are available at https://www.github.com/delomast/mhFromLowDepSeq .

Indexed as

High-Throughput Nucleotide SequencingPolymorphism, Single NucleotideGene FrequencyWhole Genome SequencingGenotype panel designLow-depth whole genome sequencingMicrohaplotypePool-seqSkim-seq

Identifiers

PMID37923981
PMCPMC10623847

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.