Clinical exome sequencing—Mistakes and caveats [PDF]
Human Mutation, 2022 Massive parallel sequencing technology has become the predominant technique for genetic diagnostics and research. Many genetic laboratories have wrestled with the challenges of setting up genetic testing workflows based on a completely new technology.
Corominas, J. +7 more
openaire +2 more sources
Mutation Profile of Normal and Tumor Cells in a Patient with Multiple Myeloma: A Case Report
Клиническая онкогематология, 2023 This paper is a case report of a patient with newly diagnosed multiple myeloma (MM) who underwent exome sequencing of peripheral blood lymphocytes and CD138+ tumor plasma cells prior to therapy.
A. S. Zhuk +9 more
doaj +1 more source
Next-generation sequencing and genetic diagnosis of Charcot-Marie-Tooth disease
Annals of Indian Academy of Neurology, 2014 Over 70 different Charcot-Marie-Tooth disease (CMT)–associated genes have now been discovered and their number is growing. Conventional genetic testing for all CMT genes is cumbersome, expensive, and impractical in an individual patient.
Ashok Verma
doaj +1 more source
An heuristic filtering tool to identify phenotype-associated genetic variants applied to human intellectual disability and canine coat colors [PDF]
, 2015 Background: Identification of one or several disease causing variant(s) from the large collection of variants present in an individual is often achieved by the sequential use of heuristic filters.
Bosmans, Tim +8 more
core +5 more sources
Criteria for reporting incidental findings in clinical exome sequencing : a focus group study on professional practices and perspectives in Belgian genetic centres [PDF]
, 2019 Background: Incidental and secondary findings (IFs and SFs) are subject to ongoing discussion as potential consequences of clinical exome sequencing (ES). International policy documents vary on the reporting of these findings.
De Baere, Elfride +4 more
core +2 more sources
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 +8 more sources
Whole exome and targeted deep sequencing identify genome-wide allelic loss and frequent SETDB1 mutations in malignant pleural mesotheliomas. [PDF]
, 2016 Malignant pleural mesothelioma (MPM), a rare malignancy with a poor prognosis, is mainly caused by exposure to asbestos or other organic fibers, but the underlying genetic mechanism is not fully understood.
Fang, Li Tai +11 more
core +3 more sources
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
GATA2 Deficiency in Adult Life Is Characterized by Phenotypic Diversity and Delayed Diagnosis
Frontiers in Immunology, 2022 The transcription factor GATA2 plays a key role in the survival and self-renewal of hematopoietic stem and progenitor cells. Autosomal dominant variants in GATA2 cause a broad spectrum of heterogeneous phenotypes.
Oded Shamriz +19 more
doaj +1 more source
Somatic mutations render human exome and pathogen DNA more similar
, 2019 Immunotherapy has recently shown important clinical successes in a substantial number of oncology indications. Additionally, the tumor somatic mutation load has been shown to associate with response to these therapeutic agents, and specific mutational ...
Cristescu, Razvan +4 more
core +1 more source