Evidence map›Paper›PMID 30204152›Full record

ArticleScientific data2018

Whole genome sequencing data for two individuals of Pakistani descent.

Shahid Y Khan, Firoz Kabir, Oussama M'Hamdi, Xiaodong Jiao, Muhammad Asif Naeem, Shaheen N Khan, Sheikh Riazuddin, J Fielding Hejtmancik, S Amer Riazuddin

Open access · goldAbstract readDataset
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific data, 2018. 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
0.1field-weighted citation impact, top 51% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  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

9 authors at 3 institutions in 2 countries.

Shahid Y KhanThe Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Firoz KabirThe Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Oussama M'HamdiOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Xiaodong JiaoOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Muhammad Asif NaeemNational Centre of Excellence in Molecular Biology, University of the Punjab, Lahore 53700, Pakistan.
Shaheen N KhanNational Centre of Excellence in Molecular Biology, University of the Punjab, Lahore 53700, Pakistan.
Sheikh RiazuddinNational Centre of Excellence in Molecular Biology, University of the Punjab, Lahore 53700, Pakistan.
J Fielding HejtmancikOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-4788-0362
S Amer RiazuddinThe Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Johns Hopkins University · USNational Institutes of Health · USUniversity of the Punjab · PK

Funding

Clinical/molecular Studies In Families With Congenital Or Hereditary CataractsZIAEY000281 · NEI · NATIONAL EYE INSTITUTE · PI HEJTMANCIK, JAMES F. · 2009 to 2025
$18.1M
Identification of Lens Function Through Analysis of Human CataractsR01EY022714 · NEI · JOHNS HOPKINS UNIVERSITY · PI RIAZUDDIN, AMER · 2014 to 2018
$2.0M
NEI NIH HHS R01 EY022714
6 · The paper itself

Abstract

Here we report next-generation based whole genome sequencing of two individuals (H1 and H2) from a family of Pakistani descent. The genomic DNA was used to prepare paired-end libraries for whole-genome sequencing. Deep sequencing yielded 706.49 and 778.12 million mapped reads corresponding to 70.64 and 77.81 Gb sequence data and 23× and 25× average coverage for H1 and H2, respectively. Notably, a total of 448,544 and 470,683 novel variants, not present in the single nucleotide polymorphism database (dbSNP), were identified in H1 and H2, respectively. Comparative analysis identified 2,415,852 variants common in both genomes including 240,181 variants absent in the dbSNP. Principal component analysis linked the ancestry of both genomes with South Asian populations. In conclusion, we report whole genome sequences of two individuals from a family of Pakistani descent.

Indexed as

Genome, HumanWhole Genome SequencingAsian PeopleFamilyHigh-Throughput Nucleotide SequencingHumansPakistanPolymorphism, Single Nucleotide

Identifiers

PMID30204152
PMCPMC6137601
OpenAlexW2891869607

What OpenQuestion holds

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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.