Long range haplotyping of paired-homologous chromosomes by single-chromosome sequencing of a single cell-Reference-Cited by-同舟云学术

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Long range haplotyping of paired-homologous chromosomes by single-chromosome sequencing of a single cell

Published:2018-01-26 Issue:1 Volume:8 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Luo Deng,Zhang Meng,Liu Ting,Cao Wei,Guo Jiajie,Mao Caiping,Li Yifan,Wang Juanmei,Huang Weiren,Lu Daru,Zhang Shuo,Li Zhoufang,He Jiankui

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-018-20069-x.pdf

Reference26 articles.

1. Miyake, A. et al. A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia. Journal of human genetics 53, 764–768 (2008).

2. Ueda, T., Compe, E., Catez, P., Kraemer, K. H. & Egly, J.-M. Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients. The Journal of experimental medicine 206, 3031–3046 (2009).

3. Wolf, J. B., Hager, R. & Cheverud, J. M. Genomic imprinting effects on complex traits: a phenotype-based perspective. Epigenetics 3, 295–299 (2008).

4. Mackie Ogilvie, C. & Scriven, P. N. Meiotic outcomes in reciprocal translocation carriers ascertained in 3-day human embryos. Eur J Hum Genet 10, 801–806, https://doi.org/10.1038/sj.ejhg.5200895 (2002).

5. Dubuc, A. M. et al. FISHing in the dark: How the combination of FISH and conventional karyotyping improves the diagnostic yield in CpG-stimulated chronic lymphocytic leukemia. Am J Hematol 91, 978–983, https://doi.org/10.1002/ajh.24452 (2016).

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