We describe Strelka2 ( https://github.com/Illumina/strelka ), an open-source small-variant-calling method for research and clinical germline and somatic sequencing applications. Strelka2 introduces a novel mixture-model-based estimation of insertion/deletion error parameters from each sample, an efficient tiered haplotype-modeling strategy, and a normal sample contamination model to improve liquid tumor analysis. For both germline and somatic calling, Strelka2 substantially outperformed the current leading tools in terms of both variant-calling accuracy and computing cost.

We show that it is possible to successfully predict subsequent memory performance based on single-trial EEG activity before and during item presentation in the study phase. Two-class classification was conducted to predict subsequently remembered vs. forgotten trials based on subjects’ responses in the recognition phase. The overall accuracy across 18 subjects was 59.6 % by combining pre- and during-stimulus information. The single-trial classification analysis provides a dimensionality reduction method to project the high-dimensional EEG data onto a discriminative space. These projections revealed novel findings in the pre- and during-stimulus period related to levels of encoding. It was observed that the pre-stimulus information (specifically oscillatory activity between 25–35Hz) −300 to 0 ms before stimulus presentation and during-stimulus alpha (7–12 Hz) information between 1000–1400 ms after stimulus onset distinguished between recollection and familiarity while the during-stimulus alpha information and temporal information between 400–800 ms after stimulus onset mapped these two states to similar values.

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Freezing of gait (FOG) is an elusive phenomenon that debilitates a large number of Parkinson’s disease (PD) patients regardless of stage of disease, medication status, or deep brain stimulation implantation. Sensory feedback cues, especially visual feedback cues, have been shown to alleviate FOG episodes or even prevent episodes from occurring. Here, we examine cortical information flow between occipital, parietal, and motor areas during the pre-movement stage of gait in a PD-with-FOG patient that had a strong positive behavioral response to visual cues, one PD-with-FOG patient without any behavioral response to visual cues, and age-matched healthy controls, before and after training with visual feedback. Results for this case study show differences in cortical information flow between the responding PD-with-FOG patient and the other two subject types, notably, an increased information flow in the beta range. Tentatively suggesting the formation of an alternative cortical sensory-motor pathway during training with visual feedback, these results are proposed as subject for further verification employing larger cohorts of patients.

We used pattern classifiers to extract features related to recognition memory retrieval from the temporal information in single-trial electroencephalography (EEG) data during attempted memory retrieval. Two-class classification was conducted on correctly remembered trials with accurate context (or source) judgments vs. correctly rejected trials. The average accuracy for datasets recorded in a single session was 61% while the average accuracy for datasets recorded in two separate sessions was 56%. To further understand the basis of the classifier’s performance, two other pattern classifiers were trained on different pairs of behavioral conditions. The first of these was designed to use information related to remembering the item and the second to use information related to remembering the contextual information (or source) about the item. Mollison and Curran (2012) had earlier shown that subjects’ familiarity judgments contributed to improved memory of spatial contextual information but not of extrinsic associated color information. These behavioral results were similarly reflected in the event-related potential (ERP) known as the FN400 (an early frontal effect relating to familiarity) which revealed differences between correct and incorrect context memories in the spatial but not color conditions. In our analyses we show that a classifier designed to distinguish between correct and incorrect context memories, more strongly involves early activity (400–500 ms) over the frontal channels for the location distinctions, than for the extrinsic color associations. In contrast, the classifier designed to classify memory for the item (without memory for the context), had more frontal channel involvement for the color associated experiments than for the spatial experiments. Taken together these results argue that location may be bound more tightly with the item than an extrinsic color association. The multivariate classification approach also showed that trial-by-trial variation in EEG corresponding to these ERP components were predictive of subjects’ behavioral responses. Additionally, the multivariate classification approach enabled analysis of error conditions that did not have sufficient trials for standard ERP analyses. These results suggested that false alarms were primarily attributable to item memory (as opposed to memory of associated context), as commonly predicted, but with little previous corroborating EEG evidence.