Publications:

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

Publication Date: 2023-02-26

Variant appearance in text: BRCA1: 212+253G>A

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1
• media-8.xlsx, sheet 1

View BVdb publication page

A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.

Bmc Medical Genomics

Mucaki, Eliseos J EJ; Caminsky, Natasha G NG; Perri, Ami M AM; Lu, Ruipeng R; Laederach, Alain A; Halvorsen, Matthew M; Knoll, Joan H M JH; Rogan, Peter K PK

Publication Date: 2016-04-11

Variant appearance in text: BRCA1: 212+253G>A; rs189352191

PubMed Link: 27067391

Variant Present in the following documents:

• Main text
• 12920_2016_Article_178.pdf
• 12920_2016_178_MOESM14_ESM.xlsx, sheet 1
• 12920_2016_178_MOESM13_ESM.xlsx, sheet 1

View BVdb publication page