Publications:

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: PKD1: 7984C>T; Gln2662Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.

Molecular Genetics & Genomic Medicine

Wang, Tao T; Li, Qinggang Q; Shang, Shunlai S; Geng, Guangrui G; Xie, Yuansheng Y; Cai, Guangyan G; Chen, Xiangmei X

Publication Date: 2019-06

Variant appearance in text: PKD1: 7984C>T; Gln2662X

PubMed Link: 31056860

Variant Present in the following documents:

• Main text
• MGG3-7-e720.pdf

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Population data improves variant interpretation in autosomal dominant polycystic kidney disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Mallawaarachchi, Amali C AC; Furlong, Timothy J TJ; Shine, John J; Harris, Peter C PC; Cowley, Mark J MJ

Publication Date: 2019-06

Variant appearance in text: PKD1: 7984C>T; Gln2662Ter

PubMed Link: 30369598

Variant Present in the following documents:

• Main text

View BVdb publication page