Unknown

Dataset Information

0

ACMG clinical laboratory standards for next-generation sequencing.


ABSTRACT: Next-generation sequencing technologies have been and continue to be deployed in clinical laboratories, enabling rapid transformations in genomic medicine. These technologies have reduced the cost of large-scale sequencing by several orders of magnitude, and continuous advances are being made. It is now feasible to analyze an individual's near-complete exome or genome to assist in the diagnosis of a wide array of clinical scenarios. Next-generation sequencing technologies are also facilitating further advances in therapeutic decision making and disease prediction for at-risk patients. However, with rapid advances come additional challenges involving the clinical validation and use of these constantly evolving technologies and platforms in clinical laboratories. To assist clinical laboratories with the validation of next-generation sequencing methods and platforms, the ongoing monitoring of next-generation sequencing testing to ensure quality results, and the interpretation and reporting of variants found using these technologies, the American College of Medical Genetics and Genomics has developed the following professional standards and guidelines.

SUBMITTER: Rehm HL 

PROVIDER: S-EPMC4098820 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature

altmetric image

Publications

ACMG clinical laboratory standards for next-generation sequencing.

Rehm Heidi L HL   Bale Sherri J SJ   Bayrak-Toydemir Pinar P   Berg Jonathan S JS   Brown Kerry K KK   Deignan Joshua L JL   Friez Michael J MJ   Funke Birgit H BH   Hegde Madhuri R MR   Lyon Elaine E  

Genetics in medicine : official journal of the American College of Medical Genetics 20130725 9


Next-generation sequencing technologies have been and continue to be deployed in clinical laboratories, enabling rapid transformations in genomic medicine. These technologies have reduced the cost of large-scale sequencing by several orders of magnitude, and continuous advances are being made. It is now feasible to analyze an individual's near-complete exome or genome to assist in the diagnosis of a wide array of clinical scenarios. Next-generation sequencing technologies are also facilitating f  ...[more]

Similar Datasets

| S-EPMC5445206 | biostudies-literature
| S-EPMC6403447 | biostudies-other
| S-EPMC7210491 | biostudies-literature
| S-EPMC4036707 | biostudies-literature
2017-04-03 | PXD003804 | Pride
| S-EPMC10359709 | biostudies-literature
| S-EPMC5297812 | biostudies-literature
| S-EPMC5977064 | biostudies-literature
| S-EPMC5540534 | biostudies-literature
| S-EPMC4610034 | biostudies-literature