Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system

Purpose: Variants of uncertain significance (VUS) are considered one of the most significant impediments to the translation of genetic test results into precise clinical recommendations. The 2015 American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) classif...

Täydet tiedot

Bibliografiset tiedot

Päätekijät:	Anna Benet-Pagès, Andreas Laner, Luis R. Nassar, Tobias Wohlfrom, Verena Steinke-Lange, Maximilian Haeussler, Elke Holinski-Feder
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	Elsevier 2025-01-01
Sarja:	Genetics in Medicine Open
Aiheet:	BRCA1 BRCA2 ENIGMA UCSC Genome Browser VUS
Linkit:	http://www.sciencedirect.com/science/article/pii/S2949774424011075
Tagit:	Lisää tagi Ei tageja, Lisää ensimmäinen tagi!