Results 241 to 250 of about 891,020 (314)

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

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

Distribution of HLA-ABC allele groups in a cohort of Chilean rheumatoid arthritis patients and healthy individuals. [PDF]

open access: yesBiol Res
Jaime M   +15 more
europepmc   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

open access: yesAdvanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li   +22 more
wiley   +1 more source

Moderate–severe beta‐thalassemia intermedia phenotype caused by sextuplicated alpha‐globin gene allele in two beta‐thalassemia carriers [PDF]

open access: bronze
Ahlem Achour   +7 more
openalex   +1 more source

Mendelian Randomization and Double Machine Learning Modeling Reveal Brain Imaging‐Derived Phenotypes as Functional Contributors to 18 Autoimmune Inflammatory Diseases

open access: yesAdvanced Science, EarlyView.
This schematic integrates the eight statistically significant causal relationships identified between 1,366 brain imaging‐derived phenotypes (IDPs) and 18 autoimmune inflammatory diseases (AIDs). Arrows indicate the direction of causality inferred from bidirectional two‐sample MR analyses.
Jinbin Chen   +8 more
wiley   +1 more source

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