Imagen de Portada

Genomic evidence for low genetic diversity but purging of strong deleterious variants in snow leopards.

Fuente: PubMed

Guardado en:

Detalles Bibliográficos
Autores principales:	Yang, Lin, Jin, Hong, Yang, Qien, Poyarkov, Andrey, Korablev, Miroslav, Rozhnov, Viatcheslav, Shao, Junjie, Fu, Qiaomei, Hernandez-Blanco, Jose Antonio, Zhan, Xiangjiang, Yu, Li, Alexandrov, Dmitry, Dai, Qingyan, Munkhtsog, Bariushaa, Du, Xin, Munkhtsog, Bayaraa, Ma, Liqing, Chen, Wanlin, Malykh, Sergei, Jin, Yipeng, He, Shunfu, Zhang, Tongzuo, Wu, Guosheng, Shi, Yonghong, Wei, Fuwen, Hu, Yibo
Formato:	Artículo científico
Lenguaje:	en
Publicado:	Genome biology 2025
Materias:	Animals Genetic Variation Genome Genomics Panthera Selection, Genetic Evolution, Molecular Phylogeny Gene Frequency
Acceso en línea:	Acceder al recurso
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares

What Can Genome Sequence Data Reveal About Population Viability?
por: Kardos, Marty, et al.
Publicado: (2025)

Population genomics reveals strong impacts of genetic drift without purging and guides conservation of bull and giant kelp.
por: Bemmels, Jordan B, et al.
Publicado: (2025)

A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review
por: Ying Yang, et al.
Publicado: (2025)

Comparative Genomics of Transisthmian Damselfishes (Abudefduf saxatilis and A. troschelii).
por: Tracy, Claire B, et al.
Publicado: (2026)

One Sea, Different Whales: Genomics Sheds Light on a Small Population of Fin Whales.
por: Biello, Roberto, et al.
Publicado: (2026)

Identification of a novel TSC1 gene variant in a patient with atypical vitiligo‐like skin lesions: Unveiling the hidden tuberous sclerosis complex
por: Linli Liu, et al.
Publicado: (2024)

Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants
por: Yingying Li, et al.
Publicado: (2024)

Clinicopathological features of Lynch syndrome pedigrees with MSH2 c.351G>A gene variant
por: Shuai Zhang, et al.
Publicado: (2025)

Identification and Validation of Biomarkers in Metabolic Dysfunction‐Associated Steatohepatitis Using Machine Learning and Bioinformatics
por: Yu‐Ying Zhang, et al.
Publicado: (2025)

MedakaBase as a unified genomic resource platform for medaka fish biology.
por: Morikami, Kenji, et al.
Publicado: (2025)

A Mutation in the ANK2 Gene Causing ASD and a Review of the Literature
por: Lu Zhao, et al.
Publicado: (2025)

A KCNQ4 Gene Variant (c.701A > G; p.His234Arg) in a Chinese Family With Nonsyndromic Deafness 2A
por: Guo‐Qing Gong, et al.
Publicado: (2025)

Development of a Tagmentation‐Based Next‐Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis‐Based Sequencing
por: Wei Cheng David Kuek, et al.
Publicado: (2024)

Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa
por: He‐nan Sun, et al.
Publicado: (2025)

Prenatal Diagnosis of Arachnoid Cysts Without Extra‐Central Nervous System Anomalies in the Korean Population: A Multi‐Center Retrospective Study on Postnatal Diagnosis and Clinical Outcomes
por: Subeen Hong, et al.
Publicado: (2025)

Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu‐Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature
por: Naser Gilani, et al.
Publicado: (2024)

Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination
por: Si Huang, et al.
Publicado: (2026)

Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders
por: Wuming Xie, et al.
Publicado: (2025)

Clinical characteristics of a case of multiple mitochondrial dysfunction syndrome 3
por: Hai Xu, et al.
Publicado: (2024)

Historical Control Analysis Demonstrates Greater Long‐Term Reduction in Plasma Globotriaosylceramide (Gb3) by Venglustat Compared With Placebo or Agalsidase Beta in Male Patients With Classic Fabry Disease
por: Dominique P. Germain, et al.
Publicado: (2025)

Correction to “Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I”
Publicado: (2024)

The Functions and Implications of MicroRNAs in Premature Ovarian Insufficiency
por: Hui Gao, et al.
Publicado: (2025)

Prenatal Diagnosis of Autosomal Recessive Primary Microcephaly Type 2 Caused by Compound Heterozygous WDR62 Variants in a Family With Two Recurrent Cases
por: Yan‐Fang Li, et al.
Publicado: (2026)

Pharmacogenomic Calling From Whole‐Exome Sequencing in the Taiwanese Population—A Real‐World Experience
por: Hsu‐Heng Lin, et al.
Publicado: (2026)

SRY+ Derivative X Chromosome in a Female With Apparently Typical Sexual Development
por: Casey J. Brewer, et al.
Publicado: (2024)

Multicolor melting curve analysis discloses high carrier frequency of hearing loss‐associated variants among neonates in Jiangsu province
por: Yi Liu, et al.
Publicado: (2024)

A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene
por: Badreddine Elmakhzen, et al.
Publicado: (2025)

Issue Information
Publicado: (2025)

Reporting a Homozygous Case of Neurodevelopmental Disorder Associated With a Novel PRPF8 Variant
por: Mohammad Reza Mirinezhad, et al.
Publicado: (2025)

Issue Information
Publicado: (2024)

Social media use by patients with hypermobile Ehlers–Danlos syndrome
por: Colin M. E. Halverson, et al.
Publicado: (2024)

Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2
por: Ying Chen, et al.
Publicado: (2024)

Unraveling CBS Mutations and Their Clinical Impact in a Chinese Family With Classical Homocystinuria
por: Jingfei Zhang, et al.
Publicado: (2025)

A new phenotype of EVEN‐PLUS syndrome in a Chinese family and literature review
por: Ming Liu, et al.
Publicado: (2024)

The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling
por: Malek Bouassida, et al.
Publicado: (2024)

Clinical and Genetic Analysis of SMARCC2 ‐Related Diseases in Three Chinese Patients
por: Shan Ou, et al.
Publicado: (2026)

Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons
por: Kosuke Taniguchi, et al.
Publicado: (2025)

Identification of potential molecular mechanism related to craniofacial dysmorphism caused by FOXI3 deficiency
por: Xiao‐Liang Xing, et al.
Publicado: (2024)

Clinical approach for managing patients with unexpected CDH1 mutations: A case report
por: Yago Garitaonaindia, et al.
Publicado: (2024)

Hope, but never expect? Comparing parents' pre‐ and post‐disclosure attitudes toward return of results from diagnostic exome sequencing for their child
por: Candice Cornelis, et al.
Publicado: (2024)