Next‐generation sequence‐based preimplantation genetic testing for monogenic disease resulting from maternal mosaicism

Author:

Hu Xiao1,He Wen‐Bin1,Zhang Shuo‐Ping12,Luo Ke‐Li123,Gong Fei123,Dai Jing1,Zhang Yi1,Wan Zhen‐Xing1,Li Wen123,Yuan Shi‐Min1,Tan Yue‐Qiu123ORCID,Lu Guang‐Xiu134,Lin Ge1234,Du Juan123ORCID

Affiliation:

1. Reproductive and Genetic Hospital of CITIC‐Xiangya Changsha China

2. Institute of Reproduction and Stem Cell Engineering School of Basic Medical Science Central South University Changsha China

3. Key Laboratory of Stem Cell and Reproduction Engineering Ministry of Health Changsha China

4. National Engineering and Research Center of Human Stem Cell Changsha China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Reference26 articles.

1. PGD for germline mosaicism;Altarescu G.;Reproductive Biomedicine Online,2012

2. A genomic view of mosaicism and human disease;Biesecker L. G.;Nature Reviews Genetics,2013

3. Somatic mosaicism: implications for disease and transmission genetics;Campbell I. M.;Trends in Genetics,2015

4. Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders;Campbell I. M.;American Journal of Human Genetics,2014

5. ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders;ESHRE PGT‐M Working Group;Human Reproduction Open,2020

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