npj Genomic Medicine

Characteristics of Hepatitis B virus integration and mechanism of inducing chromosome translocation

Xiaofang Cui
Yiyan Li
Weiyang Li

Article 02 June 2023

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Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina

Patricio G. Schlottmann
José D. Luna
Malena Daich Varela
ArticleOpen Access22 May 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population

Anne Slavotinek
Shannon Rego
Mary E. Norton
ArticleOpen Access26 May 2023
Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots

Yan Ding
Mallory Owen
Stephen F. Kingsmore
ArticleOpen Access14 Feb 2023

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npj Genomic Medicine Journal Metrics

npj Genomic Medicine has a 2-year impact factor of 6.09 (2021), article downloads of 387,676 (2021) and 7 days from submission to the first editorial decision (2021).
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NGS-based Aspergillus detection in plasma and lung lavage of children with invasive pulmonary aspergillosis

Emmy Wesdorp
Laura Rotte
Jeroen de Ridder
ArticleOpen Access17 Mar 2025
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation

Tomer Poleg
Noam Hadar
Ohad S. Birk
ArticleOpen Access13 Mar 2025
PD-1 transcriptomic landscape across cancers and implications for immune checkpoint blockade outcome

Hui-Zi Chen
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ArticleOpen Access11 Mar 2025
Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis

Qian Sun
Peiwen Xu
Yuan Gao
ArticleOpen Access11 Mar 2025
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort

Lieselot Vincke
Kristof Van Schil
Elfride De Baere
ArticleOpen Access07 Mar 2025
Discovery of ancestry-specific variants associated with clopidogrel response among Caribbean Hispanics

Guang Yang
Pablo González
Jorge Duconge
ArticleOpen Access07 Mar 2025
Understanding rare variant contributions to autism: lessons from dystrophin-deficient model

Claudia Ismania Samogy Costa
Luciana Madanelo
Maria Rita Passos-Bueno
ArticleOpen Access06 Mar 2025
Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort

Sek Won Kong
In-Hee Lee
Kenneth D. Mandl
ArticleOpen Access28 Feb 2025
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease

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Susan M. White
Stephen W. Scherer
PerspectiveOpen Access27 Feb 2025

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Characteristics of Hepatitis B virus integration and mechanism of inducing chromosome translocation

Featured

Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population

Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots

Announcements

npj Genomic Medicine Journal Metrics

ORCID Reviewer Recognition

Browse articles

NGS-based Aspergillus detection in plasma and lung lavage of children with invasive pulmonary aspergillosis

Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation

PD-1 transcriptomic landscape across cancers and implications for immune checkpoint blockade outcome

Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort

Discovery of ancestry-specific variants associated with clopidogrel response among Caribbean Hispanics

Understanding rare variant contributions to autism: lessons from dystrophin-deficient model

Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort

International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease

Trending - Altmetric

Science jobs

Alzheimer's Disease (AD) Researcher/Associate Researcher

POSTDOC POSITION, GELERNTER LAB

Faculty Positions, Aging and Neurodegeneration, Westlake Laboratory of Life Sciences and Biomedicine

Faculty Positions in Center of Bioelectronic Medicine, School of Life Sciences, Westlake University

Career Opportunities at the Yazhouwan National Laboratory, Hainan, China

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Genes and genomes and unnecessary complexity in precision medicine

NGS-based Aspergillus detection in plasma and lung lavage of children with invasive pulmonary aspergillosis

PD-1 transcriptomic landscape across cancers and implications for immune checkpoint blockade outcome

Pathogenic landscape of idiopathic male infertility: new insight towards its regulatory networks

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