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Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
Hum Mutat. 2019 Sep;40(9):1546-1556. doi: 10.1002/humu.23861. Epub 2019 Aug 23.
Hum Mutat. 2019.
PMID: 31294896
Free PMC article.
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge.
Carraro M, Monzon AM, Chiricosta L, Reggiani F, Aspromonte MC, Bellini M, Pagel K, Jiang Y, Radivojac P, Kundu K, Pal LR, Yin Y, Limongelli I, Andreoletti G, Moult J, Wilson SJ, Katsonis P, Lichtarge O, Chen J, Wang Y, Hu Z, Brenner SE, Ferrari C, Murgia A, Tosatto SCE, Leonardi E.
Carraro M, et al.
Hum Mutat. 2019 Sep;40(9):1330-1345. doi: 10.1002/humu.23823. Epub 2019 Jul 3.
Hum Mutat. 2019.
PMID: 31144778
Free PMC article.
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A fully-automated event-based variant prioritizing solution to the CAGI5 intellectual disability gene panel challenge.
Chen J.
Chen J.
Hum Mutat. 2019 Sep;40(9):1364-1372. doi: 10.1002/humu.23781. Epub 2019 May 21.
Hum Mutat. 2019.
PMID: 31066479
Free PMC article.
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