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
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
Multiple functional variants in the IL1RL1 region are pretransplant markers for risk of GVHD and infection deaths.
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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
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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
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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