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Purging and accumulation of genetic load in conservation
Our ability to assess the threat posed by the genetic load to small and declining populations
has been greatly improved by advances in genome sequencing and computational …
has been greatly improved by advances in genome sequencing and computational …
Genetics of atrial fibrillation in 2020: GWAS, genome sequencing, polygenic risk, and beyond
Atrial fibrillation is a common heart rhythm disorder that leads to an increased risk for stroke
and heart failure. Atrial fibrillation is a complex disease with both environmental and genetic …
and heart failure. Atrial fibrillation is a complex disease with both environmental and genetic …
CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores
Background Splicing of genomic exons into mRNAs is a critical prerequisite for the accurate
synthesis of human proteins. Genetic variants impacting splicing underlie a substantial …
synthesis of human proteins. Genetic variants impacting splicing underlie a substantial …
Genome interpretation using in silico predictors of variant impact
Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
Challenges in quantifying genome erosion for conservation
Massive defaunation and high extinction rates have become characteristic of the
Anthropocene. Genetic effects of population decline can lead populations into an extinction …
Anthropocene. Genetic effects of population decline can lead populations into an extinction …
Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome
Differentiation between phenotypically neutral and disease-causing genetic variation
remains an open and relevant problem. Among different types of variation, non-frameshifting …
remains an open and relevant problem. Among different types of variation, non-frameshifting …
Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools
Cystic fibrosis (CF) is caused by~ 300 pathogenic CFTR variants. The heterogeneity of
which, challenges molecular diagnosis and precision medicine approaches in CF. Our …
which, challenges molecular diagnosis and precision medicine approaches in CF. Our …
Prediction of cancer driver genes and mutations: the potential of integrative computational frameworks
The vast amount of available sequencing data allows the scientific community to explore
different genetic alterations that may drive cancer or favor cancer progression. Software …
different genetic alterations that may drive cancer or favor cancer progression. Software …
Genomic trajectories of a near-extinction event in the Chatham Island black robin
Background Understanding the micro-evolutionary response of populations to demographic
declines is a major goal in evolutionary and conservation biology. In small populations …
declines is a major goal in evolutionary and conservation biology. In small populations …
Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges
Next-generation sequencing (NGS) has revolutionized the field of rare disease diagnostics.
Whole exome and whole genome sequencing are now routinely used for diagnostic …
Whole exome and whole genome sequencing are now routinely used for diagnostic …