EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. [PDF]
, 2020 BackgroundThe contribution of somatic mosaicism, or genetic mutations arising after oocyte fertilization, to congenital heart disease (CHD) is not well understood.
Bernstein, Daniel +23 more
core +3 more sources
Effect of chemotherapy on passenger mutations in metastatic colorectal cancer
Molecular Oncology, EarlyView.Changes in passenger mutation load and predicted immunotherapy response after chemotherapy treatment. Tumor cells rich with passenger mutations have increased sensitivity to chemotherapy. Correlation of passenger mutations with neoantigen load suggests highly mutated clones promote a more effective response to immunotherapy, and therefore, first‐line ...
Marium T. Siddiqui +6 more
wiley +1 more source
Nature Genetics, 2015 Genomic analyses promise to improve tumor characterization to optimize personalized treatment for patients with hepatocellular carcinoma (HCC). Exome sequencing analysis of 243 liver tumors identified mutational signatures associated with specific risk ...
K. Schulze +23 more
semanticscholar +1 more source
Genetic landscape of autism spectrum disorder in Vietnamese children [PDF]
, 2020 Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%. However, studies of ASD in the Vietnamese population are limited.
Bui, HTP +12 more
core +2 more sources
Molecular Oncology, EarlyView.Monitoring circulating tumor DNA (ctDNA) in patients with operable breast cancer can reveal disease relapse earlier than radiology in a subset of patients. The failure to detect ctDNA in some patients with recurrent disease suggests that ctDNA could serve as a supplement to other monitoring approaches.
Kristin Løge Aanestad +35 more
wiley +1 more source
CEQer: a graphical tool for copy number and allelic imbalance detection from whole-exome sequencing data. [PDF]
PLoS ONE, 2013 Copy number alterations (CNA) are common events occurring in leukaemias and solid tumors. Comparative Genome Hybridization (CGH) is actually the gold standard technique to analyze CNAs; however, CGH analysis requires dedicated instruments and is able to ...
Rocco Piazza +10 more
doaj +1 more source
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.
New England Journal of Medicine, 2020 BACKGROUND The cause of most fetal anomalies is not determined prenatally. Exome sequencing has transformed genetic diagnosis after birth, but its usefulness for prenatal diagnosis is still emerging.
T. Sparks +21 more
semanticscholar +1 more source
VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research [PDF]
, 2016 Accurate variant calling in next generation sequencing (NGS) is critical to understand cancer genomes better. Here we present VarDict, a novel and versatile variant caller for both DNA- and RNA-sequencing data.
Ahdesmaki, Miika +9 more
core +2 more sources
Tumor mutational burden as a determinant of metastatic dissemination patterns
Molecular Oncology, EarlyView.This study performed a comprehensive analysis of genomic data to elucidate whether metastasis in certain organs share genetic characteristics regardless of cancer type. No robust mutational patterns were identified across different metastatic locations and cancer types.
Eduardo Candeal +4 more
wiley +1 more source
Clinicopathological and targeted exome gene features of a patient with metastatic acinic cell carcinoma of the parotid gland harboring an ARID2 nonsense mutation and CDKN2A/B deletion [PDF]
, 2015 We describe the presentation, treatment, clinical outcome, and targeted genome analysis of a metastatic salivary acinic cell carcinoma (AciCC). A 71-year-old male presented with a 3 cm right tail of a parotid lesion, first detected as a nodule by the ...
Momand, Jamil +4 more
core +4 more sources