Evidence map›Paper›PMID 29567674›Full record

ArticleGenome research2018

Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Sanchita Bhattacharya, Jian Li, Alexandra Sockell, Matthew J Kan, Felice A Bava, Shann-Ching Chen, María C Ávila-Arcos, Xuhuai Ji, Emery Smith, Narges B Asadi and 5 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genome research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed, 21 citations in OpenAlex.

  1. Article
  2. Ethical considerations and publishing in human bioarcheology.American journal of biological anthropology · 2022
    Article
  3. Article
  4. Article
  5. Article
  6. The Atacama skeleton.Genome research · 2018
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

15 authors at 4 institutions in 2 countries.

Sanchita BhattacharyaInstitute for Computational Health Sciences, University of California San Francisco, San Francisco, California 94158, USA.
Jian LiRoche Sequencing Solutions, Belmont, California 94002, USA.
Alexandra SockellDepartment of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA.
Matthew J KanInstitute for Computational Health Sciences, University of California San Francisco, San Francisco, California 94158, USA.
Felice A BavaBaxter Laboratory for Stem Cell Biology, Department of Microbiology and Immunology, Stanford University, Stanford, California 94305, USA.
Shann-Ching ChenInstitute for Computational Health Sciences, University of California San Francisco, San Francisco, California 94158, USA.
María C Ávila-ArcosInternational Laboratory for Human Genome Research, National Autonomous University of Mexico (UNAM) Santiago de Querétaro, Querétaro 76230, Mexico.
Xuhuai JiHuman Immune Monitoring Center and Functional Genomics Facility, Stanford University, Stanford, California 94305, USA.
Emery SmithUltra Intelligence Corporation, Boulder, Colorado 80301, USA.
Narges B AsadiRoche Sequencing Solutions, Belmont, California 94002, USA.
Ralph S LachmanDepartment of Pediatric Radiology, Stanford University School of Medicine, Stanford, California 94305, USA.
Hugo Y K LamRoche Sequencing Solutions, Belmont, California 94002, USA.
Carlos D BustamanteDepartment of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA.
Atul J ButteInstitute for Computational Health Sciences, University of California San Francisco, San Francisco, California 94158, USA.
Garry P NolanBaxter Laboratory for Stem Cell Biology, Department of Microbiology and Immunology, Stanford University, Stanford, California 94305, USA.
Stanford University · USUniversity of California, San Francisco · USAutonomous University of Queretaro · MXUniversity of Colorado Boulder · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Over a decade ago, the Atacama humanoid skeleton (Ata) was discovered in the Atacama region of Chile. The Ata specimen carried a strange phenotype-6-in stature, fewer than expected ribs, elongated cranium, and accelerated bone age-leading to speculation that this was a preserved nonhuman primate, human fetus harboring genetic mutations, or even an extraterrestrial. We previously reported that it was human by DNA analysis with an estimated bone age of about 6-8 yr at the time of demise. To determine the possible genetic drivers of the observed morphology, DNA from the specimen was subjected to whole-genome sequencing using the Illumina HiSeq platform with an average 11.5× coverage of 101-bp, paired-end reads. In total, 3,356,569 single nucleotide variations (SNVs) were found as compared to the human reference genome, 518,365 insertions and deletions (indels), and 1047 structural variations (SVs) were detected. Here, we present the detailed whole-genome analysis showing that Ata is a female of human origin, likely of Chilean descent, and its genome harbors mutations in genes (

Indexed as

Whole Genome SequencingAnimalsDNA, AncientFemaleGenome, HumanHigh-Throughput Nucleotide SequencingHumansINDEL MutationMolecular Sequence AnnotationMutationOsteochondrodysplasiasPhenotypePolymorphism, Single NucleotideDNA, Ancient

Identifiers

PMID29567674
PMCPMC5880234
OpenAlexW2792230430

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.