Evidence map›Paper›PMID 31399045›Full record

ArticleBMC genomics2019

DiscoverY: a classifier for identifying Y chromosome sequences in male assemblies.

Samarth Rangavittal, Natasha Stopa, Marta Tomaszkiewicz, Kristoffer Sahlin, Kateryna D Makova, Paul Medvedev

Open access · goldAbstract read
In one paragraph

Article in BMC genomics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
2.9field-weighted citation impact, top 9% 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

15 citing papers in PubMed, 29 citations in OpenAlex.

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  5. A survey of k-mer methods and applications in bioinformatics.Computational and structural biotechnology journal · 2024
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  6. Sexy ways: approaches to studying plant sex chromosomes.Journal of experimental botany · 2024
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  13. Representation ofJournal of computational biology : a journal of computational molecular cell biology · 2021
    Article
  14. A novelLife science alliance · 2021
    Article
  15. Dynamic evolution of great ape Y chromosomes.Proceedings of the National Academy of Sciences of the United States of America · 2020
    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 at 1 institution in 1 country.

Samarth RangavittalDepartment of Biology, Pennsylvania State University, University Park, PA, 16802, USA.
Natasha StopaDepartment of Computer Science and Engineering, Pennsylvania State University, University Park, PA, 16802, USA.
Marta TomaszkiewiczDepartment of Biology, Pennsylvania State University, University Park, PA, 16802, USA.
Kristoffer SahlinDepartment of Computer Science and Engineering, Pennsylvania State University, University Park, PA, 16802, USA.
Kateryna D MakovaDepartment of Biology, Pennsylvania State University, University Park, PA, 16802, USA. kmakova@bx.psu.edu.
Paul MedvedevDepartment of Computer Science and Engineering, Pennsylvania State University, University Park, PA, 16802, USA. pzm11@cse.psu.edu.ORCID http://orcid.org/0000-0003-3143-594X
Pennsylvania State University · US

Funding

Y Chromosome EvolutionR01GM130691 · NIGMS · PENNSYLVANIA STATE UNIVERSITY, THE · PI MAKOVA, KATERYNA · 2019 to 2022
$1.7M
Directorate for Biological Sciences DBI-1356529Directorate for Computer and Information Science and Engineering CCF-1439057, IIS-1453527, and IIS-1421908NIGMS NIH HHS R01 GM130691NIH HHS R01GM130691
6 · The paper itself

Abstract

backgroundAlthough the Y chromosome plays an important role in male sex determination and fertility, it is currently understudied due to its haploid and repetitive nature. Methods to isolate Y-specific contigs from a whole-genome assembly broadly fall into two categories. The first involves retrieving Y-contigs using proportion sharing with a female, but such a strategy is prone to false positives in the absence of a high-quality, complete female reference. A second strategy uses the ratio of depth of coverage from male and female reads to select Y-contigs, but such a method requires high-depth sequencing of a female and cannot utilize existing female references.

resultsWe develop a k-mer based method called DiscoverY, which combines proportion sharing with female with depth of coverage from male reads to classify contigs as Y-chromosomal. We evaluate the performance of DiscoverY on human and gorilla genomes, across different sequencing platforms including Illumina, 10X, and PacBio. In the cases where the male and female data are of high quality, DiscoverY has a high precision and recall and outperforms existing methods. For cases when a high quality female reference is not available, we quantify the effect of using draft reference or even just raw sequencing reads from a female.

conclusionDiscoverY is an effective method to isolate Y-specific contigs from a whole-genome assembly. However, regions homologous to the X chromosome remain difficult to detect.

Indexed as

Chromosomes, Human, YFemaleHaploidyHumansMaleSequence Analysis, DNATime FactorsGenome assemblyMale genomeY chromosome

Identifiers

PMID31399045
PMCPMC6688218
OpenAlexW2967769217

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.