NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine
作者： Anna Abulí , Montserrat Boada , Benjamín Rodríguez-Santiago , Buenaventura Coroleu , Anna Veiga
DOI: 10.1002/HUMU.22989
关键词:
摘要: … In the last 25 years, we have achieved a very wide coverage in the capacity to evaluate genes and mutations … This can now be applied in a comprehensive and massive way to several …
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Paolo Gasparini, , Raquel Rabionet, Guido Barbujani, Salvatore Melchionda, Michael Petersen, Karen Brøndum-Nielsen, Andres Metspalu, Eneli Oitmaa, Marina Pisano, Paolo Fortina, Leopoldo Zelante, Xavier Estivill, High carrier frequency of the 35delG deafness mutation in European populations European Journal of Human Genetics. ,vol. 8, pp. 19- 23 ,(2000) , 10.1038/SJ.EJHG.5200406
Sylvie Langlois, Peter Benn, Louise Wilkins-Haug, Current controversies in prenatal diagnosis 4: pre-conception expanded carrier screening should replace all current prenatal screening for specific single gene disorders. Prenatal Diagnosis. ,vol. 35, pp. 23- 28 ,(2015) , 10.1002/PD.4532
Stephanie Hallam, Heather Nelson, Valerie Greger, Cynthia Perreault-Micale, Jocelyn Davie, Nicole Faulkner, Dana Neitzel, Kristie Casey, Mark A. Umbarger, Niru Chennagiri, Alexander C. Kramer, Gregory J. Porreca, Caleb J. Kennedy, Validation for Clinical Use of, and Initial Clinical Experience with, a Novel Approach to Population-Based Carrier Screening using High-Throughput, Next-Generation DNA Sequencing The Journal of Molecular Diagnostics. ,vol. 16, pp. 180- 189 ,(2014) , 10.1016/J.JMOLDX.2013.10.006
Kaylene Ready, Imran S. Haque, Balaji S. Srinivasan, John R. Marshall, Knowledge and attitudes regarding expanded genetic carrier screening among women's healthcare providers. Fertility and Sterility. ,vol. 97, pp. 407- 413 ,(2012) , 10.1016/J.FERTNSTERT.2011.11.007
K. Wang, M. Li, H. Hakonarson, ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Research. ,vol. 38, ,(2010) , 10.1093/NAR/GKQ603
Abel González-Pérez, Nuria López-Bigas, Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel American Journal of Human Genetics. ,vol. 88, pp. 440- 449 ,(2011) , 10.1016/J.AJHG.2011.03.004
Robert G. Brzyski, Judith F. Daar, Genetic Screening of Sperm and Oocyte Donors JAMA. ,vol. 302, pp. 1702- 1704 ,(2009) , 10.1001/JAMA.2009.1508
Gabriel A. Lazarin, Imran S. Haque, Shivani Nazareth, Kevin Iori, A. Scott Patterson, Jessica L. Jacobson, John R. Marshall, William K. Seltzer, Pasquale Patrizio, Eric A. Evans, Balaji S. Srinivasan, An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. Genetics in Medicine. ,vol. 15, pp. 178- 186 ,(2013) , 10.1038/GIM.2012.114
Charles A. Sims, Pamela Callum, Marilyn Ray, Jennifer Iger, Rena E. Falk, Genetic testing of sperm donors: survey of current practices Fertility and Sterility. ,vol. 94, pp. 126- 129 ,(2010) , 10.1016/J.FERTNSTERT.2009.01.139
Silvia Parajes, Celsa Quinteiro, Fernando Domínguez, Lourdes Loidi, High Frequency of Copy Number Variations and Sequence Variants at CYP21A2 Locus: Implication for the Genetic Diagnosis of 21-Hydroxylase Deficiency PLoS ONE. ,vol. 3, pp. e2138- ,(2008) , 10.1371/JOURNAL.PONE.0002138