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Somatic variation
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This study aimed to identify new pyroptosis-associated tumor antigens for use in mRNA vaccines and the screening of sensitive LUAD populations suitable for vaccination. The association between tumor immune infiltrating cell abundance and potential tumor antigens was investigated and visualized using the analysis modules of gene expression, clinical outcomes, and somatic copy number variation.
15p
vishanshan
27-06-2024
2
1
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Cancer susceptibility germline variants generally require somatic alteration of the remaining allele to drive oncogenesis and, in some cases, tumor mutational profiles. Whether combined germline and somatic bi-allelic alterations are universally required for germline variation to influence tumor mutational profile is unclear.
15p
vibransone
28-03-2024
5
2
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Although mosaic variation has been known to cause disease for decades, high-throughput sequencing technologies with the analytical sensitivity to consistently detect variants at reduced allelic fractions have only recently emerged as routine clinical diagnostic tests. To date, few systematic analyses of mosaic variants detected by diagnostic exome sequencing for diverse clinical indications have been performed.
11p
vibransone
28-03-2024
2
2
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Comprehensive molecular profiling has revealed somatic variations in cancer at genomic, epigenomic, transcriptomic, and proteomic levels. The accumulating data has shown clearly that molecular phenotypes of cancer are complex and influenced by a multitude of factors.
13p
vibransone
28-03-2024
6
1
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Identification of germline variation and somatic mutations is a major issue in human genetics. However, due to the limitations of DNA sequencing technologies and computational algorithms, our understanding of genetic variation and somatic mutations is far from complete.
15p
vibransone
28-03-2024
5
2
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Here, we describe a novel approach for rapid discovery of a set of tumor-specific genomic structural variants (SVs), based on a combination of low coverage cancer genome sequencing using Oxford Nanopore with an SV calling and filtering pipeline. We applied the method to tumor samples of high-grade ovarian and prostate cancer patients and validated on average ten somatic SVs per patient with breakpoint-spanning PCR mini-amplicons.
14p
vibransone
28-03-2024
3
2
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Acral and mucosal melanomas are aggressive subtypes of melanoma, which have a significantly lower burden of somatic mutations than cutaneous melanomas, but more frequent copy number variations, focused gene amplifications, and structural alterations. The landscapes of their genomic alterations remain to be fully characterized.
16p
viellison
28-03-2024
5
2
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Ebook "Plant developmental biology - Biotechnological perspectives (Volume 2)" focuses on development-related areas, including tissue culture (somatic embryogenesis, microspore embryogenesis, somaclonal variation), plant processes (photosynthesis, seed maturation and seed proteins, fatty acids, vitamins, alkaloids, flower pigments and scent), signalling (amino compound-containing lipids, auxins, cytokinins and light), and molecular genetics of developmental regulation (RNA silencing, DNA methylation, epigenetics, activation tagging, homologous recombination and synthetic promoter engineering).
432p
tachieuhoa
28-01-2024
6
2
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This paper aims to explain variations in individuals’ health-related quality of life (HRQoL) by focusing on two separate sets of variables that clearly lie outside of own control: Parents’ health is measured by their experience of somatic diseases, psychological problems and any substance abuse, while parents’ wealth is indicated by childhood financial conditions (CFC).
10p
viferrari
29-10-2022
5
2
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Somatic alterations in the cancer genome, some of which are associated with changes in gene expression, have been characterized in multiple studies across diverse cancer types. However, less is known about germline variants that influence tumor biology by shaping the cancer transcriptome.
18p
visusanwojcicki
28-06-2022
9
3
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In dairy herds, mastitis causes detrimental economic losses. Genetic selection offers a sustainable tool to select animals with reduced susceptibility towards postpartum diseases. Studying underlying mechanisms is important to assess the physiological processes that cause differences between selected haplotypes.
12p
vigalileogalilei
28-02-2022
13
1
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Chromatin loops form a basic unit of interphase nuclear organization, with chromatin loop anchor points providing contacts between regulatory regions and promoters. However, the mutational landscape at these anchor points remains under-studied. Here, we describe the unusual patterns of somatic mutations and germline variation associated with loop anchor points and explore the underlying features influencing these patterns.
14p
vigalileogalilei
27-02-2022
15
1
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Accurate variant calling and genotyping represent major limiting factors for downstream applications of single-cell genomics. Here, we report Conbase for the identification of somatic mutations in single-cell DNA sequencing data.
18p
vigalileogalilei
27-02-2022
9
1
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Genomic rearrangements exert a heavy influence on the molecular landscape of cancer. New analytical approaches integrating somatic structural variants (SSVs) with altered gene features represent a framework by which we can assign global significance to a core set of genes, analogous to established methods that identify genes non-randomly targeted by somatic mutation or copy number alteration.
24p
vielonmusk
30-01-2022
16
0
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Chromosomal rearrangements occur constitutionally in the general population and somatically in the majority of cancers. Detection of balanced rearrangements, such as reciprocal translocations and inversions, is troublesome, which is particularly detrimental in oncology where rearrangements play diagnostic and prognostic roles.
11p
vialfrednobel
29-01-2022
16
0
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Somatic evolution of malignant cells produces tumors composed of multiple clonal populations, distinguished in part by rearrangements and copy number changes affecting chromosomal segments. Whole genome sequencing mixes the signals of sampled populations, diluting the signals of clone-specific aberrations, and complicating estimation of clone-specific genotypes.
14p
vialfrednobel
29-01-2022
12
0
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Variation in cancer risk among somatic tissues has been attributed to variations in the underlying rate of stem cell division. For a given tissue type, variable cancer risk between individuals is thought to be influenced by extrinsic factors which modulate this rate of stem cell division.
18p
viaristotle
29-01-2022
9
0
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Phalaenopsis is one of the most remarkable commercial genera in Orchidaceae family. Using immature explants for tissue culture of orchid results in undesired characteristics such as genetic variation and long-lasting juvenility. In this study, we optimized a protocol for somatic embryogenesis of Phalaenopsis amabilis cv. Jinan, by using mature thin cell layer (TCL) explants to minimize immature explant limitations. We examined somatic embryogenesis from two types of mature explants, viz.
9p
hanthienngao
30-11-2021
9
1
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It is well known that development of prostate cancer (PC) can be attributed to somatic mutations of the genome, acquired within proto-oncogenes or tumor-suppressor genes. What is less well understood is how germline variation contributes to disease aggressiveness in PC patients. To map germline modifiers of aggressive neuroendocrine PC, we generated a genetically diverse F2 intercross population using the transgenic TRAMP mouse model and the wild-derived WSB/EiJ (WSB) strain.
16p
vibeauty
23-10-2021
6
0
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Somatic variation is a valuable source of trait diversity in clonally propagated crops. In grapevine, which has been clonally propagated worldwide for centuries, important phenotypes such as white berry colour are the result of genetic changes caused by transposable elements.
15p
vitzuyu2711
29-09-2021
9
1
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