Danielle Perrin

TL;DR: A high-quality draft genome sequence of the domestic dog is reported, together with a dense map of single nucleotide polymorphisms (SNPs) across breeds, to shed light on the structure and evolution of genomes and genes.

TL;DR: A prospective clinical WES platform for archival formalin-fixed, paraffin-embedded tumor samples that employs computational methods for effective clinical analysis and interpretation of WES data and may inform the widespread implementation of precision cancer medicine.

TL;DR: The discovery of novel C > A/G > T transversion artifacts found at low allelic fractions in targeted capture data is described and informatics methods are presented to confidently filter these artifacts from sequencing data sets.

TL;DR: The continued MAPK signaling-based resistance identified in patients suggests that alternative dosing of current agents, more potent RAF/MEK inhibitors, and/or inhibition of the downstream kinase ERK may be needed for durable control of BRAF-mutant melanoma.

TL;DR: The illustrative case of the simple mendelian disorder medullary cystic kidney disease type 1 (MCKD1), mapped more than a decade ago to a 2-Mb region on chromosome 1, is described to provide a cautionary tale about the challenges in identifying the genes responsible for mendelians, let alone more complex, disorders through massively parallel sequencing.