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Researchers and clinicians who use radioactive tracers to pinpoint disease are in a race against time.
Scientists have already pinpointed molecular probes that work in animals to pinpoint disease like tumors, compromised arteries and the brain plaque that causes Alzheimer's long before traditional diagnostic techniques can do so.
The detection of chromosomal regions with exceptionally high statistical association between CN and GE can pinpoint disease genes and potential cancer mechanisms [ 9, 10].
Recently, many computational candidate gene selection and prioritization methods have been developed, in part to provide new avenues to pinpoint disease genes or to prioritize genes from a large list of candidates [ 10- 21].
Motivated by these understandings, we propose a rigorous statistical model named pgFusion that integrates one type of phenotype similarity and seven types of gene similarities to pinpoint disease genes.
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Despite this, GWASs alone are unable to pinpoint disease-causing single nucleotide polymorphisms (SNPs).
He's a longtime critic of the human genome project and the HapMap project, arguing that backers of those massive enterprises were misleading in suggesting that genome-wide association studies (GWAS) and other approaches would quickly pinpoint disease-risk genes meaningful for public health.
By identifying novel or rare functional genetic variants, researchers will be able to pinpoint disease-causing genes in genomic regions initially identified by association studies.
While we currently cannot make any strong claims about genotype phenotype correlations regarding cases of familial EL, this work is a starting point and a proof-of-principle that such an approach can be employed to narrow down lists of candidate genes contributing to human EL, analogous to that used to pinpoint disease-causing mutations in rare Mendelian disorders.
These results suggest that the lasso penalty is helpful for variable selection in the integration of multiple data sources, and thus benefiting our method to achieve high performance in pinpointing disease genes.
Furthermore, they have launched a personal genomics era that is revealing the breadth of genetic variation in the small number of individuals fully sequenced thus far [ 15- 18], and across targeted subgenomic portions in many individuals [ 19, 20], pinpointing disease causative alleles in exomes of affected individuals [ 21, 22].
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com