-
Article
Open AccessA distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development
Craniofacial abnormalities account for approximately one third of birth defects. The regulatory programs that build the face require precisely controlled spatiotemporal gene expression, achieved through tissue...
-
Article
Open AccessApplications of long-read sequencing to Mendelian genetics
Advances in clinical genetic testing, including the introduction of exome sequencing, have uncovered the molecular etiology for many rare and previously unsolved genetic disorders, yet more than half of indivi...
-
Article
Open AccessImplementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic
Diagnosis of rare genetic diseases can be a long, expensive and complex process, involving an array of tests in the hope of obtaining an actionable result. Long-read sequencing platforms offer the opportunity ...
-
Article
Open AccessCorrection to: Congenital pleuropulmonary blastoma in a newborn with a variant of uncertain significance in DICER1 evaluated by RNA-sequencing
-
Article
Open AccessCongenital pleuropulmonary blastoma in a newborn with a variant of uncertain significance in DICER1 evaluated by RNA-sequencing
Pleuropulmonary blastoma (PPB) is a rare mesenchymal malignancy of the lung and is the most common pulmonary malignancy in infants and children. Cystic PPB, the earliest form of PPB occurring from birth to app...
-
Article
Curated variation benchmarks for challenging medically relevant autosomal genes
The repetitive nature and complexity of some medically relevant genes poses a challenge for their accurate analysis in a clinical setting. The Genome in a Bottle Consortium has provided variant benchmark sets,...
-
Article
Open AccessLong live the king: chromosome-level assembly of the lion (Panthera leo) using linked-read, Hi-C, and long-read data
The lion (Panthera leo) is one of the most popular and iconic feline species on the planet, yet in spite of its popularity, the last century has seen massive declines for lion populations worldwide. Genomic resou...
-
Article
Tetrad analysis in the mouse
Meiotic tetrad analysis is a powerful tool for analyzing all four products of a single meiosis. A new method for tetrad analysis in mammals provides valuable insights into the mechanisms that mediate the excha...
-
Article
HDXFinder: Automated Analysis and Data Reporting of Deuterium/Hydrogen Exchange Mass Spectrometry
Hydrogen/deuterium exchange in combination with mass spectrometry (H/D MS) is a sensitive technique for detection of changes in protein conformation and dynamics. However, wide application of H/D MS has been h...
