دورية أكاديمية
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification
العنوان: | Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification |
---|---|
المؤلفون: | Padigepati, Samskruthi Reddy, Stafford, David A., Tan, Christopher A., Silvis, Melanie R.Aff1, Aff2, Jamieson, KirstyAff1, Aff2, Keyser, AndrewAff1, Aff3, Nunez, Paola Alejandra CorreaAff1, Aff4, Nicoludis, John M.Aff1, Aff5, Manders, Toby, Fresard, Laure, Kobayashi, Yuya, Araya, Carlos L.Aff1, Aff7, Aradhya, Swaroop, Johnson, BrittAff1, Aff6, Nykamp, KeithAff1, IDs00439024026910_cor15, Reuter, Jason A.Aff1, IDs00439024026910_cor16 |
المصدر: | Human Genetics. 143(8):995-1004 |
قاعدة البيانات: | Springer Nature Journals |
تدمد: | 03406717 14321203 |
---|---|
DOI: | 10.1007/s00439-024-02691-0 |