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Human Genome Variation
H-index 10

Human Genome Variation

Published by: Springer

https://www.nature.com/hgv/

Ranking & Metrics

Discipline name Position Best Scientists Publications D-Index
Genetics 99 33 61 9

Additional Metrics

Number of Best Scientists*: 95
Documents by Best Scientists*: 90
Top 100 Ranked Scientists*: 4
SCIMAGO H-index: 25
SCIMAGO SJR: 0.483
Impact Factor: 1.3

Overview

Top Research Topics at Human genome variation?

Human genome variation facilitates discussions on Genetics, Gene, Mutation (genetic algorithm), Missense mutation and Mutation. Phenotype, Exon, Frameshift mutation, Sanger sequencing and Exome sequencing are all subfields of Genetics research that were featured in Human genome variation. The work tackled in it goes beyond the discipline of Gene as it also encompasses Bioinformatics.

The Mutation (genetic algorithm) works featured in it incorporate elements from Pediatrics and Intellectual disability. The Intellectual disability study tackled is a key component of adjacent topics in the area of Microcephaly. The journal focuses on Mutation as well as the interrelated topic of Pathology.

The studies tackled, which mainly focus on Allele, apply to Human leukocyte antigen as well.

  • Genetics (59.01%)
  • Gene (31.40%)
  • Mutation (genetic algorithm) (19.19%)

What are the most cited papers published in the journal?

  • iJGVD: an integrative Japanese genome variation database based on whole-genome sequencing. (81 citations)
  • The Qatar genome: a population-specific tool for precision medicine in the Middle East. (60 citations)
  • 3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome. (48 citations)

Research areas of the most cited articles at Human genome variation:

The journal publications generally zeroe in on subjects such as Genetics, Gene, Bioinformatics, Phenotype and Mutation. The studies on Bioinformatics discussed at the journal papers can also contribute to research in the domains of 1p36 deletion syndrome, Telangiectasia, Internal medicine, Chromosome and Single-nucleotide polymorphism. While the journal publications focused on Phenotype, they were also able to explore topics like DiGeorge syndrome, Telangiectases, Allele and Coding region.

What topics the last edition of the journal is best known for?

  • Gene
  • Mutation
  • Internal medicine

The previous edition focused in particular on these issues:

Human genome variation was organized to reinforce research efforts on Genetics, Gene, Missense mutation, Pediatrics and Mutation (genetic algorithm). Aside from research in Genetics, the journal also discusses In patient studies. The studies in Exon, Combined pituitary hormone deficiency and Genetic variants under the umbrella field of Gene overlap with concepts in Oligodontia and Lipoid congenital adrenal hyperplasia.

Some problems in Missense mutation that were presented in the journal overlapped with concepts under Genome-wide association study, PAX4, Japanese population, In silico and Rare disease. Pediatrics research presented in the journal encompasses a variety of subjects, including Girl, Joint hypermobility, Abnormality and Epilepsy. Human genome variation explores topics in Mutation (genetic algorithm) which can be helpful for research in disciplines like Metabolic disorder and Treacher Collins syndrome, Treacle.

The most cited articles from the last journal are:

  • Genetic variability in COVID-19-related genes in the Brazilian population. (6 citations)
  • Prevalence of pharmacogenomic variants in 100 pharmacogenes among Southeast Asian populations under the collaboration of the Southeast Asian Pharmacogenomics Research Network (SEAPharm). (5 citations)
  • MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene. (2 citations)

Papers citation over time

A key indicator for each journal is its effectiveness in reaching other researchers with the papers published at that venue.

The chart below presents the interquartile range (first quartile 25%, median 50% and third quartile 75%) of the number of citations of articles over time.

The top authors publishing in Human genome variation (based on the number of publications) are:

  • Toshiyuki Yamamoto (27 papers) published 2 papers at the last edition, 1 less than at the previous edition,
  • Keiko Shimojima (18 papers) absent at the last edition,
  • Naomichi Matsumoto (18 papers) published 5 papers at the last edition, 3 more than at the previous edition,
  • Issei Imoto (16 papers) absent at the last edition,
  • Katsushi Tokunaga (15 papers) published 1 paper at the last edition, 1 less than at the previous edition.

The overall trend for top authors publishing in this journal is outlined below. The chart shows the number of publications at each edition of the journal for top authors.

Only papers with recognized affiliations are considered

The top affiliations publishing in Human genome variation (based on the number of publications) are:

  • University of Tokyo (34 papers) published 2 papers at the last edition, 1 less than at the previous edition,
  • Keio University (23 papers) published 3 papers at the last edition, 3 less than at the previous edition,
  • Yokohama City University (20 papers) published 5 papers at the last edition, 3 more than at the previous edition,
  • University of Tokushima (18 papers) published 1 paper at the last edition the same number as at the previous edition,
  • Boston Children's Hospital (18 papers) published 3 papers at the last edition the same number as at the previous edition.

The overall trend for top affiliations publishing in this journal is outlined below. The chart shows the number of publications at each edition of the journal for top affiliations.

Publication chance based on affiliation

The publication chance index shows the ratio of articles published by the best research institutions in the journal edition to all articles published within that journal. The best research institutions were selected based on the largest number of articles published during all editions of the journal.

The chart below presents the percentage ratio of articles from top institutions (based on their ranking of total papers).Top affiliations were grouped by their rank into the following tiers: top 1-10, top 11-20, top 21-50, and top 51+. Only articles with a recognized affiliation are considered.

During the most recent 2021 edition, 7.89% of publications had an unrecognized affiliation. Out of the publications with recognized affiliations, 42.86% were posted by at least one author from the top 10 institutions publishing in the journal. Another 14.29% included authors affiliated with research institutions from the top 11-20 affiliations. Institutions from the 21-50 range included 22.86% of all publications and 20.00% were from other institutions.

Returning Authors Index

A very common phenomenon observed among researchers publishing scientific articles is the intentional selection of journals they have already attended in the past. In particular, it is worth analyzing the case when the authors participate in the same journal from year to year.

The Returning Authors Index presented below illustrates the ratio of authors who participated in both a given as well as the previous edition of the journal in relation to all participants in a given year.

Returning Institution Index

The graph below shows the Returning Institution Index, illustrating the ratio of institutions that participated in both a given and the previous edition of the conference in relation to all affiliations present in a given year.

The experience to innovation index

Our experience to innovation index was created to show a cross-section of the experience level of authors publishing in a journal. The index includes the authors publishing at the last edition of a journal, grouped by total number of publications throughout their academic career (P) and the total number of citations of these publications ever received (C).

The group intervals were selected empirically to best show the diversity of the authors' experiences, their labels were selected as a convenience, not as judgment. The authors were divided into the following groups:

  • Novice - P < 5 or C < 25 (the number of publications less than 5 or the number of citations less than 25),
  • Competent - P < 10 or C < 100 (the number of publications less than 10 or the number of citations less than 100),
  • Experienced - P < 25 or C < 625 (the number of publications less than 25 or the number of citations less than 625),
  • Master - P < 50 or C < 2500 (the number of publications less than 50 or the number of citations less than 2500),
  • Star - P ≥ 50 and C ≥ 2500 (both the number of publications greater than 50 and the number of citations greater than 2500).

The chart below illustrates experience levels of first authors in cases of publications with multiple authors.

Top Publications

  • Human leukocyte antigen super-locus: nexus of genomic supergenes, SNPs, indels, transcripts, and haplotypes

    (2022)
    44 Citations
  • Genetic variability in COVID-19-related genes in the Brazilian population.

    Rodrigo Secolin;Tânia K de Araujo;Marina C Gonsales;Cristiane S Rocha

    (2021)
    39 Citations
  • dbTMM: an integrated database of large-scale cohort, genome and clinical data for the Tohoku Medical Megabank Project

    (2021)
    18 Citations
  • Rare single-nucleotide DAB1 variants and their contribution to Schizophrenia and autism spectrum disorder susceptibility.

    Yoshihiro Nawa;Hiroki Kimura;Daisuke Mori;Hidekazu Kato

    (2020)
    11 Citations
  • Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex

    (2022)
    11 Citations
  • Nonsense variants of STAG2 result in distinct congenital anomalies.

    Hiromi Aoi;Ming Lei;Takeshi Mizuguchi;Nobuko Nishioka

    (2020)
    10 Citations
  • National Center Biobank Network

    (2022)
    9 Citations

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Best Scientists Contributing to This Journal