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Phenotypic observation
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Genome-wide data are increasingly important in the clinical evaluation of human disease. However, the large number of variants observed in individual patients challenges the efficiency and accuracy of diagnostic review. Recent work has shown that systematic integration of clinical phenotype data with genotype information can improve diagnostic workflows and prioritization of filtered rare variants.
17p
vioraclene
31-03-2024
1
1
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Abnormal DNA methylation is observed as an early event in breast carcinogenesis. However, how such alterations arise is still poorly understood. microRNAs (miRNAs) regulate gene expression at the posttranscriptional level and play key roles in various biological processes.
21p
vibransone
28-03-2024
4
2
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Recent studies have suggested that individual variants do not sufficiently explain the variable expressivity of phenotypes observed in complex disorders. For example, the 16p12.1 deletion is associated with developmental delay and neuropsychiatric features in affected individuals, but is inherited in > 90% of cases from a mildly-affected parent.
21p
vibransone
28-03-2024
8
2
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Mappings between ontologies enable reuse and interoperability of biomedical knowledge. The Radiology Gamuts Ontology (RGO)—an ontology of 16 918 diseases, interventions, and imaging observations—provides a resource for differential diagnosis and automated textual report understanding in radiology.
6p
visteverogers
24-06-2023
4
2
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To study the effect on patient cohorts of mapping condition (diagnosis) codes from source billing vocabularies to a clinical vocabulary. It appears possible to map diagnoses from disparate vocabularies to a single clinical vocabulary and carry out research using a single set of definitions, thus improving efficiency and transportability of research.
8p
visteverogers
24-06-2023
5
2
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Accurate electronic phenotyping is essential to support collaborative observational research. Supervised machine learning methods can be used to train phenotype classifiers in a high-throughput manner using imperfectly labeled data.
7p
vighostrider
25-05-2023
4
2
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Genome Wide Association Studies (GWAS) are based on the observation of genome-wide sets of genetic variants – typically single-nucleotide polymorphisms (SNPs) – in diferent individuals that are associated with phenotypic traits.
20p
vinarcissa
21-03-2023
6
1
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Loss-of-function mutations in TBC1D20 cause Warburg Micro syndrome 4 (WARBM4), which is an autosomal recessive syndromic disorder characterized by eye, brain, and genital abnormalities. Blind sterile (bs) mice carry a Tbc1d20-null mutation and exhibit cataracts and testicular phenotypes similar to those observed in WARBM4 patients. In addition to TBC1D20, mutations in RAB3GAP1, RAB3GAP2 and RAB18 cause WARBM1-3 respectively.
10p
vinarcissa
21-03-2023
5
1
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Six morphogroups (Grs) were detected, and only one (Gr6) showed lower morpho-environmental instability (50% RE). Germoplasmic accommodation was observed during the interglacial and glacial periods along the SW distribution range of the genus. The lack of target phenotype must be the consequence of the intense alterations of potential distributions in Jasione since its origin. J. montana and J. heldreichii showed agglomerative phenotypes characteristics.
18p
lyhuyenthu
31-01-2023
5
2
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Lesion-mimic and premature aging (lmpa) mutant lmpa1 was identified from the ethyl methane sulfonate (EMS) mutant library in the bread wheat variety Keda 527 (KD527) background. To reveal the genetic basis of lmpa1 mutant, phenotypic observations and analyses of chlorophyll content and photosynthesis were carried out in lmpa1, KD527 and their F1 and F2 derivatives.
11p
vihagrid
30-01-2023
5
3
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Previous studies have demonstrated that ICU (intensive care unit) survivors have decreased long-term survival rates compared to the general population. However, knowledge about how to identify ICU survivors with higher risk of death and the adjustable factors associated with mortality is still lacking.
9p
viisaacnewton
25-04-2022
11
2
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Genome-wide association studies (GWAS) have become indispensable in human medicine and genomics, but very few have been carried out on bacteria. Here we introduce Scoary, an ultra-fast, easy-to-use, and widely applicable software tool that scores the components of the pan-genome for associations to observed phenotypic traits while accounting for population stratification, with minimal assumptions about evolutionary processes.
9p
vialfrednobel
29-01-2022
14
0
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Differences in gene expression drive phenotypic differences between species, yet major organs and tissues generally have conserved gene expression programs. Several comparative transcriptomic studies have observed greater similarity in gene expression between homologous tissues from different vertebrate species than between diverse tissues of the same species.
11p
viaristotle
29-01-2022
14
0
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CIMP (CpG island methylator phenotype) is an epigenetic molecular subtype, observed in multiple malignancies and associated with the epigenetic silencing of tumor suppressors. Currently, for most cancers including gastric cancer (GC), mechanisms underlying CIMP remain poorly understood.
29p
viarchimedes
26-01-2022
10
0
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Single-cell RNA sequencing has emerged as a powerful tool for characterizing cells, but not all phenotypes of interest can be observed through changes in gene expression. Linking sequencing with optical analysis has provided insight into the molecular basis of cellular function, but current approaches have limited throughput. Here, we present a high-throughput platform for linked optical and gene expression profiling of single cells.
11p
viarchimedes
26-01-2022
9
0
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Here we present a discovery of a new fish from the family Gobiidae in Lake Prespa, which is known as a European hotspot for biodiversity and endemism. This is the first detection of a fish species from this family, not only regarding this lake but also in the territory of the Republic of North Macedonia in general. The close examination of the recorded specimens revealed the presence of perianal organ surrounding the anus. This unique organ and various other observed morphometric and phenotypic characteristics point out to the genus Economidichthys.
6p
dolomite36
30-12-2021
17
0
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Mucolipidosis type II (ML-II, I-cell disease) is a fatal inherited lysosomal storage disease caused by a deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase. A characteristic skeletal phenotype is one of the many clinical manifestations of ML-II. Since the mechanisms underlying these skeletal defects in ML-II are not completely understood, we hypothesized that a defect in osteogenic differentiation of ML-II bone marrow mesenchymal stem cells (BM-MSCs) might be responsible for this skeletal phenotype.
8p
thiencuuchu
27-11-2021
9
1
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If unmanaged, high rates of inbreeding in livestock populations adversely impact their reproductive fitness. In beef cattle, historical selection strategies have increased the frequency of several segregating fatal autosomal recessive polymorphisms. Selective breeding has also decreased the extent of haplotypic diversity genome-wide. By identifying haplotypes for which homozygotes are not observed but would be expected based on their frequency, candidates for developmentally lethal recessive loci can be localized.
11p
vilarryellison
29-10-2021
8
1
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Glucose plays a key role as an energy source in most mammals, but its importance in fish appears to be limited that so far seemed to belong to diabetic humans only. Several laboratories worldwide have made important efforts in order to better understand this strange phenotype observed in fish.
14p
vibeauty
23-10-2021
11
1
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Accumulating evidence suggests that genome plasticity allows filamentous plant pathogens to adapt to changing environments. Recently, the generalist plant pathogen Phytophthora ramorum has been documented to undergo irreversible phenotypic alterations accompanied by chromosomal aberrations when infecting trunks of mature oak trees (genus Quercus). In contrast, genomes and phenotypes of the pathogen derived from the foliage of California bay (Umbellularia californica) are usually stable.
19p
vibeauty
23-10-2021
12
1
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