The Scalable Variant Call Representation: Enabling Genetic Analysis Beyond One Million Genomes.

Motivation: The Variant Call Format (VCF) is widely used in genome sequencing but scales poorly. For instance, we estimate a 150,000 genome VCF would occupy 900 TiB, making it costly and complicated to produce, analyze, and store. The issue stems from VCF's requirement to densely represent both reference-genotypes and allele-indexed arrays.

Botulinum toxin injection for retrograde cricopharyngeal muscle dysfunction syndrome.

Retrograde cricopharyngeal dysfunction (RCPD) syndrome renders patients unable to belch, causing disabling symptoms that impact quality of life. Injection of botulinum toxin into the cricopharyngeal muscle has been reported as a trial treatment for both therapeutic and diagnostic purposes. We describe the injection technique, under general anesthesia using endoscopy or by transcutaneous injection with electromyographic control.

First example of airway restoration using cryopreserved aortic allograft after total laryngectomy: CARE case report.

Case Description: A 70 year-old woman presenting T4aN2cM0 laryngeal carcinoma first underwent total laryngectomy with airway reconstruction by cryopreserved aortic allograft. Six months after chemoradiotherapy, she underwent endoscopic surgery to create a neo-laryngopharynx.

Results: At 13 months after primary surgery, day- and night-time breathing was effectively restored, with a little persistent salivary false passage, and a whispering but comprehensible voice after tracheostomy closure.

A Genetically Encoded Redox-Active Nicotinamide Amino Acid.

Nicotinamide-containing cofactors play an essential role in many enzymes that catalyze two-electron redox reactions. However, it is difficult to engineer nicotinamide binding sites into proteins due to the extended nature of the cofactor-protein interface and the precise orientation of the nicotinamide moiety required for efficient electron transfer to or from the substrate. To address these challenges, we genetically encoded a noncanonical amino acid (ncAA) bearing a nicotinamide side chain in bacteria.