Prediction of disease‐associated functional variants in noncoding regions through a comprehensive analysis by integrating datasets and features
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24203
Abstract: One of the greatest challenges in human genetics is deciphering the link between functional variants in noncoding sequences and the pathophysiology of complex diseases. To address this issue, many methods have been developed to sort… read more here.
Keywords: variants noncoding; prediction disease; functional variants; disease associated ... See more keywords
Potentially functional variants of CHMP4A and PANX1 in the pyroptosis‐related pathway predict survival of patients with non‐oropharyngeal head and neck squamous cell carcinoma
Sign Up to like & getrecommendations! Published in 2024 at "Molecular Carcinogenesis"
DOI: 10.1002/mc.23767
Abstract: Pyroptosis has been implicated in the advancement of various cancers. Triggering pyroptosis within tumors amplifies the immune response, thereby fostering an antitumor immune environment. Nonetheless, few published studies have evaluated associations between functional variants in… read more here.
Keywords: patients non; oropharyngeal head; pyroptosis; pyroptosis related ... See more keywords
Integration of association and computational methods reveals functional variants of LEPR gene for abdominal fat content in chickens
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Integrative Agriculture"
DOI: 10.1016/s2095-3119(20)63575-4
Abstract: Abstract Leptin receptor (LEPR) plays a vital role in obesity in humans and animals. The objective of this study is to assess LEPR functional variants for chicken adipose deposition by integration of association and in-silico… read more here.
Keywords: lepr gene; integration association; abdominal fat; association ... See more keywords
Systematic prioritization of functional variants and effector genes underlying colorectal cancer risk
Sign Up to like & getrecommendations! Published in 2024 at "Nature Genetics"
DOI: 10.1038/s41588-024-01900-w
Abstract: Genome-wide association studies of colorectal cancer (CRC) have identified 170 autosomal risk loci. However, for most of these, the functional variants and their target genes are unknown. Here, we perform statistical fine-mapping incorporating tissue-specific epigenetic… read more here.
Keywords: colorectal cancer; risk; functional variants; target genes ... See more keywords
Multiple functional variants in the IL1RL1 region are pretransplant markers for risk of GVHD and infection deaths.
Sign Up to like & getrecommendations! Published in 2019 at "Blood advances"
DOI: 10.1182/bloodadvances.2019000075
Abstract: Graft-versus-host disease (GVHD) and infections are the 2 main causes of death without relapse after allogeneic hematopoietic cell transplantation (HCT). Elevated soluble serum simulation-2 (sST2), the product of IL1RL1 in plasma/serum post-HCT, is a validated… read more here.
Keywords: death; infection; functional variants; sst2 levels ... See more keywords
Identification of potential functional variants and genes at 18q21.1 associated with the carcinogenesis of colorectal cancer
Sign Up to like & getrecommendations! Published in 2022 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1010050
Abstract: Genome-wide association studies (GWAS) have identified more than 160 susceptibility loci for colorectal cancer (CRC). The effects of these variants, particularly their mechanisms, however, remain unclear. In this study, a comprehensive functional annotation of CRC-related… read more here.
Keywords: functional variants; identification potential; potential functional; crc ... See more keywords
Whole-Exome Sequencing Reveals Migraine-Associated Novel Functional Variants in Arab Ancestry Females: A Pilot Study
Sign Up to like & getrecommendations! Published in 2022 at "Brain Sciences"
DOI: 10.3390/brainsci12111429
Abstract: Migraine, as the seventh most disabling neurological disease with 26.9% prevalence in Saudi females, lacks studies on identifying associated genes and pathways with migraines in the Arab population. This case control study aims to identify… read more here.
Keywords: arab ancestry; migraine; whole exome; functional variants ... See more keywords
Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants
Sign Up to like & getrecommendations! Published in 2024 at "Genes"
DOI: 10.3390/genes15040521
Abstract: The nomenclature of star alleles has been widely used in pharmacogenomics to enhance treatment outcomes, predict drug response variability, and reduce adverse reactions. However, the discovery of numerous rare functional variants through genome sequencing introduces… read more here.
Keywords: star alleles; star allele; star; functional variants ... See more keywords