American Journal of Human Genetics

Top Research Topics at American Journal of Human Genetics?

American Journal of Human Genetics explores disciplines such as Genetics, Molecular biology, Gene, Locus (genetics) and Allele. The presentations discussing Genetics offer insights in topics such as Genetic linkage, Gene mapping, Haplotype, Mutation and Gene mutation. The journal features Genetic linkage research that overlaps with concepts in Genetic marker.

The Haplotype study tackling the subject of Linkage disequilibrium is the focus of American Journal of Human Genetics. The majority of Mutation studies presented zero in on Missense mutation. Molecular biology study tackled is connected to the field of Exon.

The study on Gene featured in American Journal of Human Genetics expounds on the topic of Phenotype in particular. The work on Locus (genetics) addressed in the journal expands to the thematically related Genetic heterogeneity. Allele frequency is the primary subject of Allele works presented in American Journal of Human Genetics.

• Genetics (54.11%)
• Molecular biology (13.22%)
• Gene (12.49%)

What are the most cited papers published in the journal?

• PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses (20064 citations)
• A new statistical method for haplotype reconstruction from population data. (6753 citations)
• Construction of a genetic linkage map in man using restriction fragment length polymorphisms. (6734 citations)

Research areas of the most cited articles at American Journal of Human Genetics:

The published papers primarily focus on research topics in Genetics, Mutation, Locus (genetics), Allele and Gene. Haplotype, Genetic linkage, Missense mutation, Allele frequency and Genotype are all topics related to Genetics research discussed in the published articles. The study on Gene presented in the published articles is investigated in conjunction with research in Molecular biology.

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

• Gene
• Internal medicine
• Mutation

The previous edition focused in particular on these issues:

The journal mostly deals with topics like Genetics, Gene, Genome-wide association study, Computational biology and Phenotype. Missense mutation, Exome sequencing, Allele, Mutation and Haploinsufficiency are some of the facets of Genetics tackled in it. It focused on Allele research but expanded to cover Neurodevelopmental disorder.

It centers on topics in Gene, with a focus on Genetic variation. Issues in Genome-wide association study were discussed, taking into consideration concepts from other disciplines like Quantitative trait locus, Expression quantitative trait loci, Genetic association and Locus (genetics). The work on Computational biology tackled in it brings together disciplines like Genome and Disease.

The most cited articles from the last journal are:

• Disentangling selection on genetically correlated polygenic traits via whole-genome genealogies. (22 citations)
• A dyadic approach to the delineation of diagnostic entities in clinical genomics. (15 citations)
• Estimation of non-additive genetic variance in human complex traits from a large sample of unrelated individuals. (13 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.

Top authors and change over time

The top authors publishing in American Journal of Human Genetics (based on the number of publications) are:

• James R. Lupski (107 papers) published 7 papers at the last edition, 6 more than at the previous edition,
• F.S. Lozano Sánchez (74 papers) absent at the last edition,
• Han G. Brunner (71 papers) published 3 papers at the last edition,
• Tim M. Strom (70 papers) absent at the last edition,
• Jill A. Rosenfeld (69 papers) published 5 papers at the last edition the same number as 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.

Top affiliations and change over time

Only papers with recognized affiliations are considered

The top affiliations publishing in American Journal of Human Genetics (based on the number of publications) are:

• Boston Children's Hospital (683 papers) published 32 papers at the last edition, 6 more than at the previous edition,
• National Institutes of Health (561 papers) published 15 papers at the last edition, 5 less than at the previous edition,
• Harvard University (532 papers) published 21 papers at the last edition the same number as at the previous edition,
• University of Washington (487 papers) published 18 papers at the last edition, 4 less than at the previous edition,
• Baylor College of Medicine (427 papers) published 14 papers at the last edition, 5 less than 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, 31.38% of publications had an unrecognized affiliation. Out of the publications with recognized affiliations, 51.83% were posted by at least one author from the top 10 institutions publishing in the journal. Another 9.76% included authors affiliated with research institutions from the top 11-20 affiliations. Institutions from the 21-50 range included 14.63% of all publications and 23.78% 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.