Supplementary data are available at Bioinformatics online.

Background: Diagnosis of benign paroxysmal positional vertigo (BPPV) depends on the accurate interpretation of nystagmus induced by positional tests. However, difficulties in interpreting eye-movement often can arise in primary care practice or emergency room. We hypothesized that the use of machine learning would be helpful for the interpretation. Methods: From our clinical data warehouse, 91,778 nystagmus videos from 3467 patients with dizziness were obtained, in which the three-dimensional movement of nystagmus was annotated by four otologic experts. From each labeled video, 30 features changed into 255 grid images fed into the input layer of the neural network for the training dataset. For the model validation, video dataset of 3566 horizontal, 2068 vertical, and 720 torsional movements from 1005 patients with BPPV were collected. Results: The model had a sensitivity and specificity of 0.910 ± 0.036 and 0.919 ± 0.032 for horizontal nystagmus; of 0.879 ± 0.029 and 0.894 ± 0.025 for vertical nystagmus; and of 0.783 ± 0.040 and 0.799 ± 0.038 for torsional nystagmus, respectively. The affected canal was predicted with a sensitivity of 0.806 ± 0.010 and a specificity of 0.971 ± 0.003. Conclusions: As our deep-learning model had high sensitivity and specificity for the classification of nystagmus and localization of affected canal in patients with BPPV, it may have wide clinical applicability.

Summary Meiotic crossovers facilitate chromosome segregation and create new combinations of alleles in gametes. Crossover frequency varies along chromosomes and crossover interference limits the coincidence of closely spaced crossovers. Crossovers can be measured by observing the inheritance of linked transgenes expressing different colors of fluorescent protein in Arabidopsis pollen tetrads. Here we establish DeepTetrad, a deep learning‐based image recognition package for pollen tetrad analysis that enables high‐throughput measurements of crossover frequency and interference in individual plants. DeepTetrad will accelerate the genetic dissection of mechanisms that control meiotic recombination.

Malformations of cortical development (MCD) are neurological conditions displaying focal disruption of cortical architecture and cellular organization arising during embryogenesis, largely from somatic mosaic mutations, and causing intractable epilepsy. Identifying the genetic causes of MCD has been a challenge, as mutations remain at low allelic fractions in brain tissue resected to treat condition-related epilepsy. Here, we report a genetic landscape from 283 brain resections, identifying 69 mutated genes through intensive profiling of somatic mutations, combining whole-exome and targeted-amplicon sequencing with functional validation including in utero electroporation of mice and single-nucleus RNA sequencing. Genotype-phenotype correlation analysis elucidated specific MCD gene sets associating distinct pathophysiological and clinical phenotypes. The unique single-cell level spatiotemporal expression patterns of mutated genes in control and patient brains implicate critical roles in excitatory neurogenic pools during brain development, and in promoting neuronal hyperexcitability after birth.

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