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Information encoded in gene-frequency trajectories.
Publication Type: Academic Journal
Source(s): Bio Systems [Biosystems] 2023 Sep; Vol. 231, pp. 104982. Date of Electronic Publication: 2023 Jul 23.
Abstract: In this work we present a systematic mathematical approximation scheme that exposes the way that information, about the evolutionary forces of selection and random genetic drift, is encoded within gene-frequency trajectories. We determine approximate, ...
Beyond fitness: the nature of selection acting through the constructive steps of lifecycles.
Publication Type: Academic Journal
Source(s): Evolution; international journal of organic evolution [Evolution] 2023 Sep 01; Vol. 77 (9), pp. 1967-1986.
Abstract: We address the problem of defining selection and extracting the adaptive part of evolutionary change, originally formalized by Fisher and Price. Conventionally, selection and adaptation are defined through fitness attributed to genes or genotypes chose...
Clinical implications of conflicting variant interpretations in the cancer genetics clinic.
Publication Type: Academic Journal
Source(s): Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jul; Vol. 25 (7), pp. 100837. Date of Electronic Publication: 2023 Apr 11.
Abstract: Purpose: The aim of this study was to describe the clinical impact of commercial laboratories issuing conflicting classifications of genetic variants.Methods: Results from 2000 patients undergoing a multigene hereditary cancer panel by a single laborat...
An investigation of the sex-specific genetic architecture of fitness in Drosophila melanogaster.
Publication Type: Academic Journal
Source(s): Evolution; international journal of organic evolution [Evolution] 2023 Sep 01; Vol. 77 (9), pp. 2015-2028.
Abstract: In dioecious populations, the sexes employ divergent reproductive strategies to maximize fitness and, as a result, genetic variants can affect fitness differently in males and females. Moreover, recent studies have highlighted an important role of the ...
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
Publication Type: Academic Journal
Source(s): Journal of medical genetics [J Med Genet] 2023 Aug; Vol. 60 (8), pp. 810-818. Date of Electronic Publication: 2023 Jan 20.
Abstract: Background: Genomic variant prioritisation is one of the most significant bottlenecks to mainstream genomic testing in healthcare. Tools to improve precision while ensuring high recall are critical to successful mainstream clinical genomic testing, in ...
Effects of population size change on the genetics of adaptation following an abrupt change in environment.
Publication Type: Academic Journal
Source(s): Evolution; international journal of organic evolution [Evolution] 2023 Jul 27; Vol. 77 (8), pp. 1852-1863.
Abstract: Since the rediscovery of Mendelian genetics over a century ago, there has been much debate about the evolutionary importance of mutations with large phenotypic effects. While population genetic models predict that large-effect mutations will typically ...
Leveraging trans-ethnic genetic risk scores to improve association power for complex traits in underrepresented populations.
Publication Type: Academic Journal
Source(s): Briefings in bioinformatics [Brief Bioinform] 2023 Jul 20; Vol. 24 (4).
Abstract: Trans-ethnic genome-wide association studies have revealed that many loci identified in European populations can be reproducible in non-European populations, indicating widespread trans-ethnic genetic similarity. However, how to leverage such shared in...
Barriers to completion of expanded carrier screening in an inner city population.
Publication Type: Academic Journal
Source(s): Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jul; Vol. 25 (7), pp. 100858. Date of Electronic Publication: 2023 Apr 20.
Abstract: Purpose: The American College of Medical Genetics and Genomics emphasizes a "consistent and equitable approach for offering carrier screening." At our academic center, publicly insured prenatal patients underwent universal expanded carrier screening (E...
Enhanced frequency of transcription pre-initiation complexes assembly after exposure to UV irradiation results in increased repair activity and reduced probabilities for mutagenesis.
Publication Type: Academic Journal
Source(s): Nucleic acids research [Nucleic Acids Res] 2023 Sep 08; Vol. 51 (16), pp. 8575-8586.
Abstract: In addition to being essential for gene expression, transcription is crucial for the maintenance of genome integrity. Here, we undertook a systematic approach, to monitor the assembly kinetics of the pre-initiating RNA Polymerase (Pol) II at promoters ...
Dissecting human population variation in single-cell responses to SARS-CoV-2.
Publication Type: Academic Journal
Source(s): Nature [Nature] 2023 Sep; Vol. 621 (7977), pp. 120-128. Date of Electronic Publication: 2023 Aug 09.
Abstract: Humans display substantial interindividual clinical variability after SARS-CoV-2 infection 1-3 , the genetic and immunological basis of which has begun to be deciphered 4 . However, the extent and drivers of population differences in immune responses t...