Publications:

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.

Scientific Reports

Castellanos, Elisabeth E; Gel, Bernat B; Rosas, Inma I; Tornero, Eva E; Santín, Sheila S; Pluvinet, Raquel R; Velasco, Juan J; Sumoy, Lauro L; Del Valle, Jesús J; Perucho, Manuel M; Blanco, Ignacio I; Navarro, Matilde M; Brunet, Joan J; Pineda, Marta M; Feliubadaló, Lidia L; Capellá, Gabi G; Lázaro, Conxi C; Serra, Eduard E

Publication Date: 2017-01-04

Variant appearance in text: BRCA1: 548-293G>A; rs117281398

PubMed Link: 28051113

Variant Present in the following documents:

• srep39348-s1.pdf

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: 548-293G>A; rs117281398

PubMed Link: 27067391

Variant Present in the following documents:

• Main text
• 12920_2016_178_MOESM13_ESM.xlsx, sheet 1
• 12920_2016_178_MOESM8_ESM.xlsx, sheet 1
• 12920_2016_178_MOESM14_ESM.xlsx, sheet 1
• 12920_2016_Article_178.pdf

View BVdb publication page