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De novo identification of expressed cancer somatic mutations from single-cell RNA sequencing data
Identifying expressed somatic mutations from single-cell RNA sequencing data de novo is challenging but highly valuable. We propose RESA –...
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Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease
BackgroundDe novo mutations (DNMs) are variants that occur anew in the offspring of noncarrier parents. They are not inherited from either parent...
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Survival differences between patients with de novo and relapsed/progressed advanced non-small cell lung cancer without epidermal growth factor receptor mutations or anaplastic lymphoma kinase rearrangements
BackgroundWe aimed to examine whether patients with de novo and relapsed/progressed stage IIIB–IV non-small cell lung cancer (NSCLC) without...
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De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis
Lambdoid craniosynostosis (CS) is a congenital anomaly resulting from premature fusion of the cranial suture between the parietal and occipital...
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De novo mutations within metabolism networks of amino acid/protein/energy in Chinese autistic children with intellectual disability
BackgroundAutism spectrum disorder (ASD) is often accompanied by intellectual disability (ID). Despite extensive studies, however, the genetic basis...
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Poor prognostic implications of myelodysplasia-related mutations in both older and younger patients with de novo AML
A set of myelodysplasia-related (MDS-R) gene mutations are incorporated into the 2022 European LeukemiaNet risk classification as adverse genetic...
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Identification of de novo Mutations in the Chinese Autism Spectrum Disorder Cohort via Whole-Exome Sequencing Unveils Brain Regions Implicated in Autism
Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder characterized by deficits in social interactions and repetitive...
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Patterns and distribution of de novo mutations in multiplex Middle Eastern families
While de novo mutations (DNMs) are key to genetic diversity, they are also responsible for a high number of rare disorders. To date, no study has...
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Comprehensive de novo mutation discovery with HiFi long-read sequencing
BackgroundLong-read sequencing (LRS) techniques have been very successful in identifying structural variants (SVs). However, the high error rate of...
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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of rare de novo and inherited coding variants in 42,607...
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De Novo Sphingolipid Biosynthesis in Atherosclerosis
Atherosclerosis is the formation of fibrofatty lesions in the arterial wall, and this inflammatory state of the artery is the main cause of advanced...
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Reverse Genetics Systems for the De Novo Rescue of Diverse Members of Paramyxoviridae
Paramyxoviruses place significant burdens on both human and wildlife health; while some paramyxoviruses are established within human populations,...
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A de novo germline pathogenic BRCA1 variant identified following an osteosarcoma pangenomic molecular analysis
De novo germline pathogenic variants (gPV) of the BReast CAncer 1 ( BRCA1 ) gene are very rare. Only a few have been described up to date, usually in...
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A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report
Basal cell nevus syndrome (BCNS), or Gorlin syndrome, is a rare autosomal dominant disorder caused by mutations in the tumor suppressor gene PTCH1...
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Clinical outcomes of advanced non-small cell lung cancer patients harboring distinct subtypes of EGFR mutations and receiving first-line tyrosine kinase inhibitors: brain metastasis and de novo T790M matters
BackgroundThe clinical features, survival outcomes and patterns of treatment failure of advanced non-small cell lung cancer (NSCLC) patients...
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Progressive Ataxia due to de novo Missense Variants in the CACNA1A Gene
The CACNA1A gene encodes the alpha-1A subunit of P/Q type voltage-gated calcium channel Ca v 2.1, which is associated with a broad clinical spectrum...
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Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease
Rare coding mutations cause ∼45% of congenital heart disease (CHD). Noncoding mutations that perturb cis -regulatory elements (CREs) likely contribute...
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Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development
Neurodevelopmental disorders (NDDs) and congenital anomalies (CAs) are rare disorders with complex etiology. In this study, we investigated the less...
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A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity
Early-onset ataxias are often difficult to diagnose due to the genetic and phenotypic heterogeneity of patients. Whole exome sequencing (WES) is a...
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Identification and Functional Analysis of a de novo IKZF3 Mutation in a Pediatric Patient with Combined Immunodeficiency
AIOLOS, a vital member of the IKAROS protein family, plays a significant role in lymphocyte development and function through DNA binding and...
