User:Heihaheihaha/sandbox

This is the user sandbox of Heihaheihaha. A user sandbox is a subpage of the user's user page. It serves as a testing spot and page development space for the user and is not an encyclopedia article. Create or edit your own sandbox here.

Other sandboxes: Main sandbox | Template sandbox

Finished writing a draft article? Are you ready to request review of it by an experienced editor for possible inclusion in Wikipedia? Submit your draft for review!

Segregation analysis is a statistical method used to assess whether the distribution of phenotypes within families aligns with the inheritance of a major gene responsible for that trait.^[1] It is employed to identify Mendelian ratios in sibling groups or, more broadly, to ascertain the inheritance pattern of a specific phenotype using family data, with a focus on revealing the effects of a single gene.^[2]

Detecting of ROH

Chromosomal microarray analysis is one of the commonly used tools in the detection of chromosome uniparental disomy in prenatal diagnosis.^[3]

Generally, there are two methods used for the detection of ROH, tools like PLINK relies on a scanning window approach^[4], it slides a window on the genome and count the number of heterozygous SNPs and missing SNPs at each window, the window with the number under the predefined maximum values

ROH in prenatal test

Dependenting on the length and distribution, ROHs may have different indications such as uniparental disomy, identity of descent, common ancestral markers in populations. ^[3] As ROH smaller than 3 Mb spread throughout the genome are common even in outbred populations, these segments were usually thougut to be unimportant to be reproted.^[5]

Reference

^ Oh, Chad K.; Molfino, Nestor A. (2013), "Hereditary Pulmonary Emphysema", Emery and Rimoin's Principles and Practice of Medical Genetics, Elsevier, pp. 1–33, doi:10.1016/b978-0-12-383834-6.00064-1, ISBN 978-0-12-383834-6, retrieved 2024-06-01
^ Elston, R. C. (1981), Harris, Harry; Hirschhorn, Kurt (eds.), "Segregation Analysis", Advances in Human Genetics 11, Boston, MA: Springer US, pp. 63–120, doi:10.1007/978-1-4615-8303-5_2, ISBN 978-1-4615-8305-9, retrieved 2024-06-01
^ ^a ^b Xu, Chenxia; Li, Miaoyuan; Gu, Tiancai; Xie, Fenghua; Zhang, Yanfang; Wang, Degang; Peng, Jianming (2024-01-30). "Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study". Molecular Cytogenetics. 17 (1). doi:10.1186/s13039-023-00668-8. ISSN 1755-8166. PMC 10826057. PMID 38291465.{{cite journal}}: CS1 maint: PMC format (link) CS1 maint: unflagged free DOI (link)
^ Meyermans, R.; Gorssen, W.; Buys, N.; Janssens, S. (2020-12-29). "How to study runs of homozygosity using PLINK? A guide for analyzing medium density SNP data in livestock and pet species". BMC Genomics. 21 (1). doi:10.1186/s12864-020-6463-x. ISSN 1471-2164. PMC 6990544. PMID 31996125.{{cite journal}}: CS1 maint: PMC format (link) CS1 maint: unflagged free DOI (link)
^ Gonzales, Patrick R.; Andersen, Erica F.; Brown, Teneille R.; Horner, Vanessa L.; Horwitz, Juli; Rehder, Catherine W.; Rudy, Natasha L.; Robin, Nathaniel H.; Thorland, Erik C.; on behalf of the ACMG Laboratory Quality Assurance Committee (2022-02-03). "Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)". Genetics in Medicine. 24 (2): 255–261. doi:10.1016/j.gim.2021.10.004.

[1] Oh, Chad K.; Molfino, Nestor A. (2013), "Hereditary Pulmonary Emphysema", Emery and Rimoin's Principles and Practice of Medical Genetics, Elsevier, pp. 1–33, doi:10.1016/b978-0-12-383834-6.00064-1, ISBN 978-0-12-383834-6, retrieved 2024-06-01

[2] Elston, R. C. (1981), Harris, Harry; Hirschhorn, Kurt (eds.), "Segregation Analysis", Advances in Human Genetics 11, Boston, MA: Springer US, pp. 63–120, doi:10.1007/978-1-4615-8303-5_2, ISBN 978-1-4615-8305-9, retrieved 2024-06-01

[:0-3] Xu, Chenxia; Li, Miaoyuan; Gu, Tiancai; Xie, Fenghua; Zhang, Yanfang; Wang, Degang; Peng, Jianming (2024-01-30). "Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study". Molecular Cytogenetics. 17 (1). doi:10.1186/s13039-023-00668-8. ISSN 1755-8166. PMC 10826057. PMID 38291465.{{cite journal}}: CS1 maint: PMC format (link) CS1 maint: unflagged free DOI (link)

[4] Meyermans, R.; Gorssen, W.; Buys, N.; Janssens, S. (2020-12-29). "How to study runs of homozygosity using PLINK? A guide for analyzing medium density SNP data in livestock and pet species". BMC Genomics. 21 (1). doi:10.1186/s12864-020-6463-x. ISSN 1471-2164. PMC 6990544. PMID 31996125.{{cite journal}}: CS1 maint: PMC format (link) CS1 maint: unflagged free DOI (link)

[5] Gonzales, Patrick R.; Andersen, Erica F.; Brown, Teneille R.; Horner, Vanessa L.; Horwitz, Juli; Rehder, Catherine W.; Rudy, Natasha L.; Robin, Nathaniel H.; Thorland, Erik C.; on behalf of the ACMG Laboratory Quality Assurance Committee (2022-02-03). "Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)". Genetics in Medicine. 24 (2): 255–261. doi:10.1016/j.gim.2021.10.004.

[1]

[2]

[3]

[4]

[5]