Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists.

Bioinformatics pipelines are an integral component of next-generation sequencing (NGS). Processing raw sequence data to detect genomic alterations has significant impact on disease management and patient care. Because of the lack of published guidance, there is currently a high degree of variability in how members of the global molecular genetics and pathology community establish and validate bioinformatics pipelines.

PRKAR1A in the development of cardiac myxoma: a study of 110 cases including isolated and syndromic tumors.

Cardiac myxoma usually occurs as a solitary mass, but occasionally develops as part of a familial syndrome, the Carney complex (CNC). Two thirds of CNC-associated cardiac myxomas exhibit mutations in PRKAR1A. PRKAR1A mutations occur in both familial and sporadic forms of CNC but have not been described in isolated (nonsyndromic) cardiac myxomas.