Results 71 to 80 of about 188,588 (300)

Comment on “De Novo Reconstruction of 3D Human Facial Images from DNA Sequence”

open access: yesAdvanced Science, EarlyView.
This comment examines AI‐driven DNA‐based facial reconstruction, focusing on the Difface model. While such technologies promise biomedical and forensic applications, they pose significant ethical, legal, and methodological challenges. We emphasize transparency, benchmarking, and rigorous validation to avoid misinterpretation and misuse.
Jennifer K. Wagner   +3 more
wiley   +1 more source

Large-scale transcriptome-wide association study identifies new prostate cancer risk regions

open access: yesNature Communications, 2018
Genome-wide association studies (GWAS) have identified hundreds of genomic risk regions for prostate cancer. Here, the authors perform a transcriptome wide association study (TWAS) by incorporating prostate cancer GWAS with gene expression data to ...
Nicholas Mancuso   +10 more
doaj   +1 more source

Accounting for multiple comparisons in a genome-wide association study (GWAS)

open access: yesBMC Genomics, 2010
Background As we enter an era when testing millions of SNPs in a single gene association study will become the standard, consideration of multiple comparisons is an essential part of determining statistical significance.
Lautenberger James A   +6 more
doaj   +1 more source

Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. [PDF]

open access: yesPLoS ONE, 2013
BACKGROUND:Familial aggregation of Chagas cardiac disease in T. cruzi-infected persons suggests that human genetic variation may be an important determinant of disease progression.
Xutao Deng   +8 more
doaj   +1 more source

Genome-wide association study identifies 30 loci associated with bipolar disorder. [PDF]

open access: yes, 2019
Bipolar disorder is a highly heritable psychiatric disorder. We performed a genome-wide association study (GWAS) including 20,352 cases and 31,358 controls of European descent, with follow-up analysis of 822 variants with P < 1 × 10-4 in an additional
Abbott, Liam   +99 more
core  

Meta‐GWAS of Pig Semen Quality Traits Reveals Conserved Genes Regulating Mammalian Fertility

open access: yesAdvanced Science, EarlyView.
This study incorporated 14 210 individuals to perform a GWAS meta‐analysis of six semen quality traits. The GWAS meta‐analysis identifies 234 GWAS loci associated with semen quality traits. The incorporation with a functional genomics resource explains potential genetic regulation of ∼40% GWAS signals underlying semen quality traits.
Qing Lin   +26 more
wiley   +1 more source

Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis [PDF]

open access: yes, 2016
Thrombotic diseases are among the leading causes of morbidity and mortality in the world. To add insights into the genetic regulation of thrombotic disease, we conducted a genome-wide association study (GWAS) of 6135 self-reported blood clots events and ...
Abumiya   +21 more
core   +4 more sources

Reference‐Guided Chromosome‐by‐Chromosome de novo Assembly at Scale Using Low‐Coverage High‐Fidelity Long‐Reads with HiFiCCL

open access: yesAdvanced Science, EarlyView.
HiFiCCL, as the first assembly framework specifically designed for low‐coverage high‐fidelity reads, improves the assembly quality of existing assemblers and also enhances downstream applications such as large structural variant (SV) detection (>10 000 bp), synteny analysis, pangenome graph construction, and graph‐based individual‐specific germline SVs
Zhongjun Jiang   +9 more
wiley   +1 more source

A Novel 10‐Protein Score for Liver Fat Content Predicts Cardiovascular‐Kidney‐Metabolic Disease Risk

open access: yesAdvanced Science, EarlyView.
A novel 10‐protein plasma score precisely quantifies liver fat, outperforming the fatty liver index. It robustly predicts the risk of numerous cardiovascular‐kidney‐metabolic diseases and integrates with genetic data for precision prevention, offering a practical alternative to magnetic resonance imaging (MRI). Abstract Liver fat content (LFC) is a key
Xiaoqin Gan   +12 more
wiley   +1 more source

Gene expression imputation identifies candidate genes and susceptibility loci associated with cutaneous squamous cell carcinoma

open access: yesNature Communications, 2018
Genetic loci linked to susceptibility for the common skin cancer cutaneous squamous cell carcinoma (cSCC) have been identified by genome wide association studies (GWAS).
Nilah M. Ioannidis   +8 more
doaj   +1 more source

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