Hutton M. Kearney

TL;DR: The American College of Medical Genetics has developed the following professional guidelines for the interpretation and reporting of copy number variation: evaluation of constitutional copy number variants detected in the postnatal setting.

TL;DR: To assist clinical laboratories in validation of microarray methodologies for constitutional applications, the American College of Medical Genetics and Genomics has produced the following revised professional standards and guidelines.

TL;DR: The detection of possible consanguinity by genomic testing and the factors confounding the inference of a specific p­arental relationship are described to guide the documentation of suspected consanguination by clinical laboratory professionals and to alert laboratories to the need to establish a reporting policy in conjunction with their ethics review committee and legal counsel.

TL;DR: The identity and function of the Drosophila melanogaster gene recombination defective (rec) is described and it is shown that REC encodes a member of the mini-chromosome maintenance (MCM) protein family, which is essential for DNA replication and found in all eukaryotes.

TL;DR: The American College of Medical Genetics, as the professional organization of board-certified clinical laboratory geneticists, outlines recommendations for the design and performance expectations for clinical genomic copy number microarrays and associated software intended for use in the postnatal setting for detection of constitutional abnormalities.