How to cite item

Increasing diagnostic yield by RNA-Sequencing in rare disease— bypass hurdles of interpreting intronic or splice-altering variants

   
@article{ATM18808,
	author = {Dong Li and Lifeng Tian and Hakon Hakonarson},
	title = {Increasing diagnostic yield by RNA-Sequencing in rare disease— bypass hurdles of interpreting intronic or splice-altering variants},
	journal = {Annals of Translational Medicine},
	volume = {6},
	number = {7},
	year = {2018},
	keywords = {},
	abstract = {Whole exome sequencing (WES) has proven to be a powerful tool for the diagnosis of Mendelian disorders. Most studies on the application of WES have reported a diagnostic yield of 25–50% (1-4), leaving a significant number of undiagnosed cases.},
	issn = {2305-5847},	url = {https://atm.amegroups.org/article/view/18808}
}