Evidence map›Paper›PMID 32133155›Full record

ArticleNPJ genomic medicine2020

Single-cell sperm transcriptomes and variants from fathers of children with and without autism spectrum disorder.

Delia Tomoiaga, Vanessa Aguiar-Pulido, Shristi Shrestha, Paul Feinstein, Shawn E Levy, Christopher E Mason, Jeffrey A Rosenfeld

Open access · goldAbstract read
In one paragraph

Article in NPJ genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.2field-weighted citation impact, top 23% 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

10 citing papers in PubMed, 21 citations in OpenAlex.

  1. Review
  2. Article
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  4. Article
  5. Identification of protein candidates in spermatozoa of water buffalo (Frontiers in cell and developmental biology · 2023
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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

7 authors at 5 institutions in 3 countries.

Delia Tomoiaga1Department of Physiology and Biophysics, Weill Cornell Medicine, New York, NY USA.
Vanessa Aguiar-Pulido2The Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, NY USA.
Shristi Shrestha3Hudson Alpha Institute for Biotechnology, Huntsville, AL USA.
Paul Feinstein4Hunter College, City University of New York, New York, NY USA.
Shawn E Levy3Hudson Alpha Institute for Biotechnology, Huntsville, AL USA.ORCID 0000-0002-1369-5740
Christopher E Mason1Department of Physiology and Biophysics, Weill Cornell Medicine, New York, NY USA.ORCID 0000-0002-1850-1642
Jeffrey A Rosenfeld7Rutgers Cancer Institute of New Jersey, New Brunswick, NJ USA.ORCID 0000-0002-8750-2841
Cornell University · USHudsonAlpha Institute for Biotechnology · USCity University of New York · USPrince Sattam Bin Abdulaziz University · SARutgers, The State University of New Jersey · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The human sperm is one of the smallest cells in the body, but also one of the most important, as it serves as the entire paternal genetic contribution to a child. Investigating RNA and mutations in sperm is especially relevant for diseases such as autism spectrum disorders (ASD), which have been correlated with advanced paternal age. Historically, studies have focused on the assessment of bulk sperm, wherein millions of individual sperm are present and only high-frequency variants can be detected. Using 10× Chromium single-cell sequencing technology, we assessed the transcriptome from >65,000 single spermatozoa across six sperm donors (scSperm-RNA-seq), including two who fathered multiple children with ASD and four fathers of neurotypical children. Using RNA-seq methods for differential expression and variant analysis, we found clusters of sperm mutations in each donor that are indicative of the sperm being produced by different stem cell pools. Finally, we have shown that genetic variations can be found in single sperm.

Indexed as

Molecular medicinePredictive markers

Identifiers

PMID32133155
PMCPMC7035312
OpenAlexW3008355978

What OpenQuestion holds

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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.