Genomic diversity: meeting the challenge of rare diseases Article Swipe

View

Neveen A. Soliman , John A. Sayer ·

YOU? · · 2025 · Open Access · · DOI: https://doi.org/10.1007/s44162-025-00067-0

Related Topics

Diversity (Politics)

Computational Biology

Evolutionary Biology

Biology

Anthropology

Concepts

Diversity (politics) Computational biology Evolutionary biology Genetics Biology Sociology Anthropology

Metadata

Type: article
Language: en
Landing Page: https://doi.org/10.1007/s44162-025-00067-0
OA Status: diamond
Cited By: 1
References: 7
Related Works: 10
OpenAlex ID: https://openalex.org/W4407163855

All OpenAlex metadata

Raw OpenAlex JSON

OpenAlex ID: https://openalex.org/W4407163855

Canonical identifier for this work in OpenAlex
DOI: https://doi.org/10.1007/s44162-025-00067-0

Digital Object Identifier
Title: Genomic diversity: meeting the challenge of rare diseases

Work title
Type: article

OpenAlex work type
Language: en

Primary language
Publication year: 2025

Year of publication
Publication date: 2025-02-05

Full publication date if available
Authors: Neveen A. Soliman, John A. Sayer

List of authors in order
Landing page: https://doi.org/10.1007/s44162-025-00067-0

Publisher landing page
Open access: Yes

Whether a free full text is available
OA status: diamond

Open access status per OpenAlex
OA URL: https://doi.org/10.1007/s44162-025-00067-0

Direct OA link when available
Concepts: Diversity (politics), Computational biology, Evolutionary biology, Genetics, Biology, Sociology, Anthropology

Top concepts (fields/topics) attached by OpenAlex
Cited by: 1

Total citation count in OpenAlex
Citations by year (recent): 2025: 1

Per-year citation counts (last 5 years)
References (count): 7

Number of works referenced by this work
Related works (count): 10

Other works algorithmically related by OpenAlex

Full payload

id	https://openalex.org/W4407163855
doi	https://doi.org/10.1007/s44162-025-00067-0
ids.doi	https://doi.org/10.1007/s44162-025-00067-0
ids.openalex	https://openalex.org/W4407163855
fwci	6.35848368
type	article
title	Genomic diversity: meeting the challenge of rare diseases
biblio.issue	1
biblio.volume	4
biblio.last_page
biblio.first_page
topics[0].id	https://openalex.org/T11642
topics[0].field.id	https://openalex.org/fields/13
topics[0].field.display_name	Biochemistry, Genetics and Molecular Biology
topics[0].score	0.9987000226974487
topics[0].domain.id	https://openalex.org/domains/1
topics[0].domain.display_name	Life Sciences
topics[0].subfield.id	https://openalex.org/subfields/1311
topics[0].subfield.display_name	Genetics
topics[0].display_name	Genomics and Rare Diseases
topics[1].id	https://openalex.org/T11287
topics[1].field.id	https://openalex.org/fields/13
topics[1].field.display_name	Biochemistry, Genetics and Molecular Biology
topics[1].score	0.9923999905586243
topics[1].domain.id	https://openalex.org/domains/1
topics[1].domain.display_name	Life Sciences
topics[1].subfield.id	https://openalex.org/subfields/1306
topics[1].subfield.display_name	Cancer Research
topics[1].display_name	Cancer Genomics and Diagnostics
topics[2].id	https://openalex.org/T11213
topics[2].field.id	https://openalex.org/fields/13
topics[2].field.display_name	Biochemistry, Genetics and Molecular Biology
topics[2].score	0.9850999712944031
topics[2].domain.id	https://openalex.org/domains/1
topics[2].domain.display_name	Life Sciences
topics[2].subfield.id	https://openalex.org/subfields/1311
topics[2].subfield.display_name	Genetics
topics[2].display_name	Genomic variations and chromosomal abnormalities
is_xpac	False
apc_list
apc_paid
concepts[0].id	https://openalex.org/C2781316041
concepts[0].level	2
concepts[0].score	0.696587324142456
concepts[0].wikidata	https://www.wikidata.org/wiki/Q1230584
concepts[0].display_name	Diversity (politics)
concepts[1].id	https://openalex.org/C70721500
concepts[1].level	1
concepts[1].score	0.44731953740119934
concepts[1].wikidata	https://www.wikidata.org/wiki/Q177005
concepts[1].display_name	Computational biology
concepts[2].id	https://openalex.org/C78458016
concepts[2].level	1
concepts[2].score	0.44416919350624084
concepts[2].wikidata	https://www.wikidata.org/wiki/Q840400
concepts[2].display_name	Evolutionary biology
concepts[3].id	https://openalex.org/C54355233
concepts[3].level	1
concepts[3].score	0.42567843198776245
concepts[3].wikidata	https://www.wikidata.org/wiki/Q7162
concepts[3].display_name	Genetics
concepts[4].id	https://openalex.org/C86803240
concepts[4].level	0
concepts[4].score	0.38921594619750977
concepts[4].wikidata	https://www.wikidata.org/wiki/Q420
concepts[4].display_name	Biology
concepts[5].id	https://openalex.org/C144024400
concepts[5].level	0
concepts[5].score	0.21927595138549805
concepts[5].wikidata	https://www.wikidata.org/wiki/Q21201
concepts[5].display_name	Sociology
concepts[6].id	https://openalex.org/C19165224
concepts[6].level	1
concepts[6].score	0.14130908250808716
concepts[6].wikidata	https://www.wikidata.org/wiki/Q23404
concepts[6].display_name	Anthropology
keywords[0].id	https://openalex.org/keywords/diversity
keywords[0].score	0.696587324142456
keywords[0].display_name	Diversity (politics)
keywords[1].id	https://openalex.org/keywords/computational-biology
keywords[1].score	0.44731953740119934
keywords[1].display_name	Computational biology
keywords[2].id	https://openalex.org/keywords/evolutionary-biology
keywords[2].score	0.44416919350624084
keywords[2].display_name	Evolutionary biology
keywords[3].id	https://openalex.org/keywords/genetics
keywords[3].score	0.42567843198776245
keywords[3].display_name	Genetics
keywords[4].id	https://openalex.org/keywords/biology
keywords[4].score	0.38921594619750977
keywords[4].display_name	Biology
keywords[5].id	https://openalex.org/keywords/sociology
keywords[5].score	0.21927595138549805
keywords[5].display_name	Sociology
keywords[6].id	https://openalex.org/keywords/anthropology
keywords[6].score	0.14130908250808716
keywords[6].display_name	Anthropology
language	en
locations[0].id	doi:10.1007/s44162-025-00067-0
locations[0].is_oa	True
locations[0].source.id	https://openalex.org/S4387285336
locations[0].source.issn	2731-085X
locations[0].source.type	journal
locations[0].source.is_oa	True
locations[0].source.issn_l	2731-085X
locations[0].source.is_core	True
locations[0].source.is_in_doaj	True
locations[0].source.display_name	Journal of Rare Diseases
locations[0].source.host_organization	https://openalex.org/P4310319900
locations[0].source.host_organization_name	Springer Science+Business Media
locations[0].source.host_organization_lineage	https://openalex.org/P4310319900
locations[0].license	cc-by
locations[0].pdf_url
locations[0].version	publishedVersion
locations[0].raw_type	journal-article
locations[0].license_id	https://openalex.org/licenses/cc-by
locations[0].is_accepted	True
locations[0].is_published	True
locations[0].raw_source_name	Journal of Rare Diseases
locations[0].landing_page_url	https://doi.org/10.1007/s44162-025-00067-0
locations[1].id	pmh:oai:doaj.org/article:14200da0b0f74bbcad7b97dfcb0332cc
locations[1].is_oa	False
locations[1].source.id	https://openalex.org/S4306401280
locations[1].source.issn
locations[1].source.type	repository
locations[1].source.is_oa	False
locations[1].source.issn_l
locations[1].source.is_core	False
locations[1].source.is_in_doaj	False
locations[1].source.display_name	DOAJ (DOAJ: Directory of Open Access Journals)
locations[1].source.host_organization
locations[1].source.host_organization_name
locations[1].source.host_organization_lineage
locations[1].license
locations[1].pdf_url
locations[1].version	submittedVersion
locations[1].raw_type	article
locations[1].license_id
locations[1].is_accepted	False
locations[1].is_published	False
locations[1].raw_source_name	Journal of Rare Diseases, Vol 4, Iss 1, Pp 1-2 (2025)
locations[1].landing_page_url	https://doaj.org/article/14200da0b0f74bbcad7b97dfcb0332cc
indexed_in	crossref, doaj
authorships[0].author.id	https://openalex.org/A5016041188
authorships[0].author.orcid	https://orcid.org/0000-0002-8942-1973
authorships[0].author.display_name	Neveen A. Soliman
authorships[0].author_position	first
authorships[0].raw_author_name	Neveen A. Soliman
authorships[0].is_corresponding	False
authorships[1].author.id	https://openalex.org/A5040517393
authorships[1].author.orcid	https://orcid.org/0000-0003-1881-3782
authorships[1].author.display_name	John A. Sayer
authorships[1].author_position	last
authorships[1].raw_author_name	John A. Sayer
authorships[1].is_corresponding	False
has_content.pdf	False
has_content.grobid_xml	False
is_paratext	False
open_access.is_oa	True
open_access.oa_url	https://doi.org/10.1007/s44162-025-00067-0
open_access.oa_status	diamond
open_access.any_repository_has_fulltext	False
created_date	2025-10-10T00:00:00
display_name	Genomic diversity: meeting the challenge of rare diseases
has_fulltext	False
is_retracted	False
updated_date	2025-11-06T03:46:38.306776
primary_topic.id	https://openalex.org/T11642
primary_topic.field.id	https://openalex.org/fields/13
primary_topic.field.display_name	Biochemistry, Genetics and Molecular Biology
primary_topic.score	0.9987000226974487
primary_topic.domain.id	https://openalex.org/domains/1
primary_topic.domain.display_name	Life Sciences
primary_topic.subfield.id	https://openalex.org/subfields/1311
primary_topic.subfield.display_name	Genetics
primary_topic.display_name	Genomics and Rare Diseases
related_works	https://openalex.org/W4391375266, https://openalex.org/W2082860237, https://openalex.org/W2119695867, https://openalex.org/W2130076355, https://openalex.org/W1990804418, https://openalex.org/W1993764875, https://openalex.org/W2046158694, https://openalex.org/W2788277189, https://openalex.org/W2013243191, https://openalex.org/W2061542922
cited_by_count	1
counts_by_year[0].year	2025
counts_by_year[0].cited_by_count	1
locations_count	2
best_oa_location.id	doi:10.1007/s44162-025-00067-0
best_oa_location.is_oa	True
best_oa_location.source.id	https://openalex.org/S4387285336
best_oa_location.source.issn	2731-085X
best_oa_location.source.type	journal
best_oa_location.source.is_oa	True
best_oa_location.source.issn_l	2731-085X
best_oa_location.source.is_core	True
best_oa_location.source.is_in_doaj	True
best_oa_location.source.display_name	Journal of Rare Diseases
best_oa_location.source.host_organization	https://openalex.org/P4310319900
best_oa_location.source.host_organization_name	Springer Science+Business Media
best_oa_location.source.host_organization_lineage	https://openalex.org/P4310319900
best_oa_location.license	cc-by
best_oa_location.pdf_url
best_oa_location.version	publishedVersion
best_oa_location.raw_type	journal-article
best_oa_location.license_id	https://openalex.org/licenses/cc-by
best_oa_location.is_accepted	True
best_oa_location.is_published	True
best_oa_location.raw_source_name	Journal of Rare Diseases
best_oa_location.landing_page_url	https://doi.org/10.1007/s44162-025-00067-0
primary_location.id	doi:10.1007/s44162-025-00067-0
primary_location.is_oa	True
primary_location.source.id	https://openalex.org/S4387285336
primary_location.source.issn	2731-085X
primary_location.source.type	journal
primary_location.source.is_oa	True
primary_location.source.issn_l	2731-085X
primary_location.source.is_core	True
primary_location.source.is_in_doaj	True
primary_location.source.display_name	Journal of Rare Diseases
primary_location.source.host_organization	https://openalex.org/P4310319900
primary_location.source.host_organization_name	Springer Science+Business Media
primary_location.source.host_organization_lineage	https://openalex.org/P4310319900
primary_location.license	cc-by
primary_location.pdf_url
primary_location.version	publishedVersion
primary_location.raw_type	journal-article
primary_location.license_id	https://openalex.org/licenses/cc-by
primary_location.is_accepted	True
primary_location.is_published	True
primary_location.raw_source_name	Journal of Rare Diseases
primary_location.landing_page_url	https://doi.org/10.1007/s44162-025-00067-0
publication_date	2025-02-05
publication_year	2025
referenced_works	https://openalex.org/W2773318670, https://openalex.org/W4306684931, https://openalex.org/W4211005061, https://openalex.org/W2148885985, https://openalex.org/W4386732130, https://openalex.org/W4399361702, https://openalex.org/W4403788819
referenced_works_count	7
abstract_inverted_index
cited_by_percentile_year.max	95
cited_by_percentile_year.min	91
countries_distinct_count	0
institutions_distinct_count	2
sustainable_development_goals[0].id	https://metadata.un.org/sdg/2
sustainable_development_goals[0].score	0.5
sustainable_development_goals[0].display_name	Zero hunger
citation_normalized_percentile.value	0.85542132
citation_normalized_percentile.is_in_top_1_percent	False
citation_normalized_percentile.is_in_top_10_percent	True