A Novel Detection Method for High-Order SNP Epistatic Interactions Based on Explicit-Encoding-Based Multitasking Harmony Search.

To elucidate the genetic basis of complex diseases, it is crucial to discover the single-nucleotide polymorphisms (SNPs) contributing to disease susceptibility. This is particularly challenging for high-order SNP epistatic interactions (HEIs), which exhibit small individual effects but potentially large joint effects. These interactions are difficult to detect due to the vast search space, encompassing billions of possible combinations, and the computational complexity of evaluating them. This study proposes a novel explicit-encoding-based multitasking harmony search algorithm (MTHS-EE-DHEI) specifically designed to address this challenge. The algorithm operates in three stages. First, a harmony search algorithm is employed, utilizing four lightweight evaluation functions, such as Bayesian network and entropy, to efficiently explore potential SNP combinations related to disease status. Second, a G-test statistical method is applied to filter out insignificant SNP combinations. Finally, two machine learning-based methods, multifactor dimensionality reduction (MDR) as well as random forest (RF), are employed to validate the classification performance of the remaining significant SNP combinations. This research aims to demonstrate the effectiveness of MTHS-EE-DHEI in identifying HEIs compared to existing methods, potentially providing valuable insights into the genetic architecture of complex diseases. The performance of MTHS-EE-DHEI was evaluated on twenty simulated disease datasets and three real-world datasets encompassing age-related macular degeneration (AMD), rheumatoid arthritis (RA), and breast cancer (BC). The results demonstrably indicate that MTHS-EE-DHEI outperforms four state-of-the-art algorithms in terms of both detection power and computational efficiency. The source code is available at https://github.com/shouhengtuo/MTHS-EE-DHEI.git .

More Stable Memory Retention of Novel Words Learned from Fast Mapping than from Explicit Encoding.

There is a heated debate on a learning paradigm known as "fast mapping" for its early neocortical dependence and retained memory over time for amnesic patients with hippocampal system damage. Whether the fast mapping allows hippocampus independent learning and induces rapid integration is poorly understood. The present study aims to investigate the effect of fast mapping on very long-term retention, which to our knowledge has not been previously explored. We tested memory retention ranging from 10 min to 1.5 years, for novel word-object associations learned from fast mapping or explicit encoding procedures. The three-alternative forced choice recognition task was employed to assess memory performance. Besides the slight adjustment of the testing schedule, other settings remained the same in Experiment 2 to replicate and verify the findings of Experiment 1. Results showed that overall memory retrieval performance was higher after explicit encoding as compared to fast mapping. However, retrieval performance after explicit encoding dropped after 1.5 years, but remained stable in the fast mapping condition. Furthermore, matching the semantic category of the known and the novel items during the fast mapping paradigm might affect long-term retention. These results suggest that fast mapping creates more stable long-term memory representations as compared to the explicit encoding strategy.

Explicit encoding vs. fast mapping of novel spoken words: Electrophysiological and behavioural evidence of diverging mechanisms.

It has been claimed that two major neurocognitive mechanisms - instruction-based explicit encoding (EE) and inference-driven fast mapping (FM) may be involved in rapid acquisition of novel words, but their exact neural underpinnings remain poorly understood. To address this, we trained 36 adult participants with 20 novel spoken words in an audio-visual task, carefully balanced between the EE and FM conditions for physical, psycholinguistic and pragmatic properties as well as the overall task setup. To assess the neural dynamics associated with novel word acquisition, we recorded event-related potentials (ERPs) elicited by these words before and after training, and analysed their relationship with the behavioural learning outcomes, measured in a semantic matching task. Both learning regimes led to successful acquisition, which was somewhat more efficient for EE than FM, as indicated by higher accuracy in the behavioural task. We also found that, whereas words learnt via both EE and FM protocols elicited most pronounced ERP peaks at ∼196 and ∼280 ms, these two phases of activity diverged with respect to the learning type. Multiple linear regression and correlation analyses indicated that the learning-induced amplitude dynamics in the earlier peak was significantly related to behavioural performance for FM-learned items, which may possibly be explained by FM's stronger reliance on early automatic mechanisms of word processing. Performance on EE words was, in turn, significantly linked to the amplitude of the second peak only, potentially due to the involvement of later, top-down controlled processes in this type of word acquisition. Grand-average ERP-based source analysis indicated a left-lateralised activity in the anterior-temporal lobe for FM learning, and a bilateral activation for EE. The results confirm the existence of partially diverging neurocognitive systems for word acquisition and suggest that the configuration of newly established word memory circuits depends on the mode of their acquisition.

Anodal tDCS over Broca's area improves fast mapping and explicit encoding of novel vocabulary.

An accumulating body of evidence suggests that transcranial direct current stimulation (tDCS) can be used to affect language processing, including word acquisition. There has been, however, no comprehensive study of effects of tDCS of the core language areas in relation to the main word-learning mechanisms. Two principal strategies have been posited as important for natural word acquisition: explicit encoding (EE) which relies on direct instructions and repetition of material, and fast mapping (FM) which operates implicitly, via context-based inference or deduction. We used anodal and cathodal tDCS of Broca's and Wernicke's areas to assess effects of stimulation site and polarity on novel word acquisition in both EE and FM regimes. 160 participants, divided into five groups, received 15 min of cathodal or anodal tDCS over one of the two areas or a sham (placebo) stimulation before learning eight novel words, presented ten times each in a short naturalistic audio-visual word-picture association session, fully counterbalanced across different learning regimes. The outcome of novel word acquisition was measured immediately after the training using a free recall task. The results showed elevated accuracy in all real stimulation groups in comparison with sham stimulation; however, this effect only reached full significance after anodal tDCS of Broca's area. Comparisons between the two learning modes indicated that Broca's anodal tDCS significantly improved both implicit and explicit acquisition of novel vocabulary in comparison with sham tDCS, without, however, any significant differences between EE and FM regimes as such. The results indicate involvement of the left inferior-frontal neocortex in the learning of novel vocabulary and suggest a possibility to promote different types of word acquisition using anodal tDCS of this area.

Exploring Novel Word Learning Via Fast Mapping and Explicit Encoding in Persons with Temporal Lobe Epilepsy.

Objective: To explore novel word learning via fast mapping (FM) and explicit encoding (EE) in temporal lobe epilepsy (TLE). Methods: 16 right and 16 left temporal lobe epilepsy (RTLE and LTLE) patients along with 32 normal controls (NC) underwent learning of 24 novel object name pairs through standard FM and EE techniques. Their learning was assessed via a three-choice alternate delayed recognition task on the day of learning and on the following day. Recognition scores were compared using nonparametric statistics across the groups with P value set at <.05. Results: RTLE and NC performed similarly, while LTLE and NC differed significantly in novel word learning irrespective of the method of encoding. LTLE and RTLE differed in EE-based novel word learning alone. Further, with respect to encoding techniques, all groups performed better on EE compared to FM. The novel word associations learned via FM showed a lesser decline compared to EE following overnight integration in RTLE and NC. Conclusion: Novel word learning via FM did not facilitate learning above EE in TLE patients or NC. But FM-based words could better overcome forgetting following overnight integration in RTLE and NC. Hence, it is possible that FM has the potential to improve retention of novel information following overnight integration in RTLE as in NC. However, its efficacy in improving retention in LTLE needs further evidence.

Electrophysiological Evidence of Dissociation Between Explicit Encoding and Fast Mapping of Novel Spoken Words.

Existing behavioral, neuropsychological and functional neuroimaging data suggest that at least two major cognitive strategies are used for new word learning: fast mapping (FM) via context-dependent inference and explicit encoding (EE) via direct instruction. However, these distinctions remain debated at both behavioral and neurophysiological levels, not least due to confounds related to diverging experimental settings. Furthermore, the neural dynamics underpinning these two putative processes remain poorly understood. To tackle this, we designed a paradigm presenting 20 new spoken words in association with pictures in either FM or EE settings, closely matched for auditory and visual features and overall task demands. We tested word acquisition using a range of behavioral measures as well as passive event-related potential (ERP) responses, an established measure of word memory trace activation, and compared brain activity elicited by novel FM and EE words before and after the learning session. Behavioral data obtained in free recall, recognition and semantic word-picture matching tasks indicated successful acquisition of new words after just 10 exposures. Crucially, we found no behavioral evidence of different acquisition outcomes between FM and EE learning. ERP data, which exhibited the main response peaks at ~170, 250, and 520 ms, also indicated successful learning, with statistically different responses between novel and familiar words present only before, but not after the training, suggesting rapid formation of new neural memory circuits matching in activation those for previously known words. Furthermore, already at the earliest peak, we found different topographic distributions for the two learning types, with left-lateralized FM dynamics, suggestive of core language system involvement, and more diffuse activity for EE items, possibly suggesting the role of attention/executive control network. A similar effect also manifested later, at ~520 ms. Our data suggest that while both EE and FM learning can be successful for rapid word acquisition at the behavioral level, the diverging electrophysiological patterns suggest a dissociation between the neural systems underpinning these learning strategies.

Effectiveness of fast mapping to promote learning in schizophrenia.

Fast mapping (FM), a process that promotes the expeditious incidental learning of information, is thought to support rapid vocabulary acquisition in young children through extra-medial temporal lobe (MTL) regions. A recent study suggested that patients with MTL damage resulting in profound amnesia were able to learn novel word-image associations using an FM paradigm. The present study investigated whether FM would be an effective strategy to promote learning for individuals with schizophrenia, a severe mental illness associated with compromised MTL functionality. Twenty-five patients with schizophrenia and 27 healthy control subjects completed trials of incidental FM encoding (experimental condition) and explicit encoding (EE, control condition) over the course of three visits spaced one week (± 2 days) apart. All participants were evaluated for recognition 10 minutes after each encoding condition was presented, and again one week (± 2 days) later. Results indicate that both groups performed better on the EE recognition trials when compared to FM (p's < 0.05). For the FM recognition trials, both groups performed similarly. However, participants with schizophrenia performed significantly worse on the EE recognition trials than healthy control participants (p's < 0.05). While participants with schizophrenia did not perform significantly worse when assessed for FM recognition, these results do not provide enough evidence to suggest that FM facilitates learning to a greater extent in schizophrenia when compared to EE. Whether FM may benefit a subgroup of patients with schizophrenia remains a focus of further investigation.