Genetics in Medicine

Top Research Topics at Genetics in Medicine?

Genetics in Medicine mainly deals with areas of study such as Genetics, Genetic testing, Internal medicine, MEDLINE and Family medicine. Gene, Phenotype, Allele, Exome sequencing and Missense mutation are all subfields of Genetics research that were featured in Genetics in Medicine. Exome is the primary subject of Exome sequencing works presented in it.

The research on Genetic testing tackled can also make contributions to studies in the areas of Test (assessment), Bioinformatics, Disease, Genetic counseling and Pediatrics. Some problems in Internal medicine that were presented in the journal overlapped with concepts under Gastroenterology, Endocrinology, Oncology and Cardiology. The study on Family medicine presented in the journal intersects with subjects under the field of Medical genetics.

• Genetics (23.22%)
• Genetic testing (15.33%)
• Internal medicine (13.18%)

What are the most cited papers published in the journal?

• Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. (10553 citations)
• ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing (1801 citations)
• A comprehensive review of genetic association studies. (1581 citations)

Research areas of the most cited articles at Genetics in Medicine:

The published papers aim to foster the development of research in Genetics, Genetic testing, MEDLINE, Internal medicine and Family medicine. While work presented in the journal articles provide substantial information on Genetic testing, it also covers topics in Test (assessment), Bioinformatics, Disease, Genetic counseling and Pediatrics. Health care, Guideline, Psychiatry, Intensive care medicine and Medical genetics are some topics wherein MEDLINE research discussed in the most cited papers has an impact.

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

• Internal medicine
• Gene
• Mutation

The previous edition focused in particular on these issues:

Genetics, MEDLINE, Human genetics, Exome sequencing and Internal medicine are among the topics commonly tackled in the journal. It holds forums on MEDLINE that merges themes from other disciplines such as Genetic counseling and Family medicine. Topics in Human genetics were tackled in line with various other fields like Genomics, Medical laboratory, Computational biology and Medical genetics.

The study of Medical genetics encompasses disciplines such as Genetic testing, as well as fields such as Proband, all of which overlap with one another. The study of Pediatrics and how it intertwines with concepts under Disease were explored in the presented Exome sequencing research. Internal medicine research presented in Genetics in Medicine encompasses a variety of subjects, including Gastroenterology and Oncology.

The most cited articles from the last journal are:

• ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). (25 citations)
• Deletion of the NKG2C receptor encoding KLRC2 gene and HLA-E variants are risk factors for severe COVID-19. (22 citations)
• Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG). (17 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 Genetics in Medicine (based on the number of publications) are:

• Muin J. Khoury (81 papers) published 1 paper at the last edition,
• Heidi L. Rehm (55 papers) published 10 papers at the last edition, 8 more than at the previous edition,
• Wylie Burke (51 papers) published 1 paper at the last edition the same number as at the previous edition,
• Leslie G. Biesecker (51 papers) published 5 papers at the last edition, 4 more than at the previous edition,
• Marc S. Williams (49 papers) published 4 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 Genetics in Medicine (based on the number of publications) are:

• Boston Children's Hospital (394 papers) published 78 papers at the last edition, 33 more than at the previous edition,
• National Institutes of Health (265 papers) published 41 papers at the last edition, 33 more than at the previous edition,
• University of Washington (261 papers) published 26 papers at the last edition, 7 more than at the previous edition,
• Baylor College of Medicine (241 papers) published 28 papers at the last edition, 2 less than at the previous edition,
• Harvard University (232 papers) published 37 papers at the last edition, 15 more 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, 2.76% of publications had an unrecognized affiliation. Out of the publications with recognized affiliations, 52.37% were posted by at least one author from the top 10 institutions publishing in the journal. Another 11.99% included authors affiliated with research institutions from the top 11-20 affiliations. Institutions from the 21-50 range included 14.20% of all publications and 21.45% 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.