Mapping recurrent mosaic copy number variation in human neurons.

When somatic cells acquire complex karyotypes, they often are removed by the immune system. Mutant somatic cells that evade immune surveillance can lead to cancer. Neurons with complex karyotypes arise during neurotypical brain development, but neurons are almost never the origin of brain cancers.

Mapping the Complex Genetic Landscape of Human Neurons.

When somatic cells acquire complex karyotypes, they are removed by the immune system. Mutant somatic cells that evade immune surveillance can lead to cancer. Neurons with complex karyotypes arise during neurotypical brain development, but neurons are almost never the origin of brain cancers.

Implementation of a Hamming distance-like genomic quantum classifier using inner products on ibmqx2 and ibmq_16_melbourne.

Motivated by the problem of classifying individuals with a disease versus controls using a functional genomic attribute as input, we present relatively efficient general purpose inner product-based kernel classifiers to classify the test as a normal or disease sample. We encode each training sample as a string of 1 s (presence) and 0 s (absence) representing the attribute's existence across ordered physical blocks of the subdivided genome. Having binary-valued features allows for highly efficient data encoding in the computational basis for classifiers relying on binary operations.

SVXplorer: Three-tier approach to identification of structural variants via sequential recombination of discordant cluster signatures.

The identification of structural variants using short-read data remains challenging. Most approaches that use discordant paired-end sequences ignore non-trivial signatures presented by variants containing 3 breakpoints, such as those generated by various copy-paste and cut-paste mechanisms. This can result in lower precision and sensitivity in the identification of the more common structural variants such as deletions and duplications.

A clinically observed discrepancy between image-based and log-based MLC positions.

Purpose: To present a clinical case in which real-time intratreatment imaging identified an multileaf collimator (MLC) leaf to be consistently deviating from its programmed and logged position by >1 mm.

Methods: An EPID-based exit-fluence dosimetry system designed to prevent gross delivery errors was used to capture cine during treatment images. The author serendipitously visually identified a suspected MLC leaf displacement that was not otherwise detected.