APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition.
Journal Of The National Cancer Institute
Vos, Janet R JR; Fakkert, Ingrid E IE; de Hullu, Joanne A JA; van Altena, Anne M AM; Sie, Aisha S AS; Ouchene, Hicham H; Willems, Riki W RW; Nagtegaal, Iris D ID; Jongmans, Marjolijn C J MCJ; Mensenkamp, Arjen R AR; Woldringh, Gwendolyn H GH; Bulten, Johan J; Leter, Edward M EM; Kets, C Marleen CM; Simons, Michiel M; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N; ,