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Copy number variation

The population frequency of predicted pathogenic variants in the genes associated with Autosomal Dominant Polycystic Liver Disease (ADPLD) and kidney cysts

Santosh Varughese, Mary Huang, Judy Savige

The spectrum of copy number variation in the Pan-Canadian HostSeq databank

Navneet Aujla, Bhooma Thiruvahindrapuram, [ ... ], Jordan Lerner-Ellis

Machine Learning approaches for the detection of disease-causing variants in whole-genome data need to address the expression of functional genes

Camilla Mapstone, Julia Handl, David Talavera

Genome-wide characterization of copy number variants and their functional relevance in indigenous draught cattle of South Asia

Tafara Kundai Mavunga, Johann Sölkner, [ ... ], Kathiravan Periasamy

Genetic variations associated with immediate hypersensitivity reactions to iodinated contrast media: A whole exome sequencing study

Noeul Kang, Hoshik Kwon, [ ... ], Ho Yun Lee

Prevalence and phenotypic findings of pathogenic or likely pathogenic copy number variants in 10,537 pregnancies

Shiwei Ren, Wenjing Gu, [ ... ], Huan Guo

Clinical experience of genome-wide non-invasive prenatal testing as a first-tier screening test in a cohort of 59,771 pregnancies

Jianxin Zhen, Liting Zhang, [ ... ], Quanfu Zhang

Exploring the level of metabolic reprogramming and the role of prognostic factor SF3A3 in hepatocellular carcinoma through integrated single-cell landscape analysis

Wanshuo Wei, Yuan Gan, [ ... ], Lihe Jiang

A retrospective analysis of prenatal genetic results in fetal hydronephrosis

Keqin Jin, Xiayuan Xu, [ ... ], Jianfeng Luo

Distinct chromosome abnormality patterns for differential diagnosis of hepatocellular carcinoma and cholangiocarcinoma

Wantakan Ngamsangiam, Sutheemon Techa-ay, [ ... ], Malinee Thanee

Impact of β-defensin 103 (DEFB103) copy number variation on bull sperm parameters and post-insemination uterine gene expression

Ozge Sidekli, Edward J. Hollox, Sean Fair, Kieran G. Meade

Plasmodium falciparum surf_4.1 in clinical isolates: From genetic variation and variant diversity to in silico design immunopeptides for vaccine development

Nitchakarn Noranate, Jariya Sripanomphong, Fingani Annie Mphande- Nyasulu, Suwanna Chaorattanakawee

Molecular and cytogenetic characterization of Osteospermum fruticosum lines harboring wild type pRi rol genes

Siel Desmet, Katrijn Van Laere, [ ... ], Emmy Dhooghe

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