Results 61 to 70 of about 237,110 (353)

Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics

open access: yesFrontiers in Genetics, 2019
There is a growing attention toward personalized medicine. This is led by a fundamental shift from the ‘one size fits all’ paradigm for treatment of patients with conditions or predisposition to diseases, to one that embraces novel approaches, such as ...
Pawel Suwinski   +7 more
doaj   +1 more source

Monitoring of circulating tumor DNA allows early detection of disease relapse in patients with operable breast cancer

open access: yesMolecular 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

Exome Sequencing of Native Populations From the Amazon Reveals Patterns on the Peopling of South America

open access: yesFrontiers in Genetics, 2020
Studies on the peopling of South America have been limited by the paucity of sequence data from Native Americans, especially from the east part of the Amazon region.
André M. Ribeiro-dos-Santos   +10 more
doaj   +1 more source

A case report and genetic characterization of a massive acinic cell carcinoma of the parotid with delayed distant metastases. [PDF]

open access: yes, 2013
We describe the presentation, management, and clinical outcome of a massive acinic cell carcinoma of the parotid gland. The primary tumor and blood underwent exome sequencing which revealed deletions in CDKN2A as well as PPP1R13B, which induces p53.
Agrawal, Sumit K   +17 more
core   +3 more sources

Tumor mutational burden as a determinant of metastatic dissemination patterns

open access: yesMolecular 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

SNES: single nucleus exome sequencing [PDF]

open access: yesGenome Biology, 2015
AbstractSingle-cell genome sequencing methods are challenged by poor physical coverage and high error rates, making it difficult to distinguish real biological variants from technical artifacts. To address this problem, we developed a method called SNES that combines flow-sorting of single G1/0 or G2/M nuclei, time-limited multiple-displacement ...
Leung, Marco L   +3 more
openaire   +2 more sources

Correlation of the differential expression of PIK3R1 and its spliced variant, p55α, in pan‐cancer

open access: yesMolecular Oncology, EarlyView.
PIK3R1 undergoes alternative splicing to generate the isoforms, p85α and p55α. By combining large patient datasets with laboratory experiments, we show that PIK3R1 spliced variants shape cancer behavior. While tumors lose the protective p85α isoform, p55α is overexpressed, changes linked to poorer survival and more pronounced in African American ...
Ishita Gupta   +10 more
wiley   +1 more source

Clinical significance of the whole-exome studies in myeloid neoplasms using next-generation sequencing

open access: yesКлиническая онкогематология, 2013
The application of next generation sequencing (NGS) to study myeloid neoplasms pathogenesis is considered in this review. Analysis of tumor cell’s exome in patients with different forms of hematopoietic myeloid tumors revealed new recurrent mutations ...
S. A. Smirnikhina   +4 more
doaj   +1 more source

Mutation Profile of Normal and Tumor Cells in a Patient with Multiple Myeloma: A Case Report

open access: yesКлиническая 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

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. [PDF]

open access: yes, 2017
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are age-related neurodegenerative disorders with shared genetic etiologies and overlapping clinical and pathological features. Here we studied a novel ALS/FTD family and identified the
Annu, Kavya   +41 more
core   +2 more sources

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