References analysis of the Wikipedia article "Rare variant (genetics)" in the English version

doi.org

Erjavec SO, Gelfman S, Abdelaziz AR, Lee EY, Monga I, Alkelai A, Ionita-Laza I, Petukhova L, Christiano AM (Feb 2022). "Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82". Nat Commun. 13 (1): 800. Bibcode:2022NatCo..13..800E. doi:10.1038/s41467-022-28343-3. PMC 8831607. PMID 35145093.

Goldstein, DB; Allen, A; Keebler, J; Margulies, EH; Petrou, S; Petrovski, S; Sunyaev, S (July 2013). "Sequencing studies in human genetics: design and interpretation". Nature Reviews Genetics. 14 (7): 460–70. doi:10.1038/nrg3455. PMC 4117319. PMID 23752795.

Nelson, M. R.; Wegmann, D.; Ehm, M. G.; Kessner, D.; St. Jean, P.; Verzilli, C.; Shen, J.; Tang, Z.; Bacanu, S.-A.; Fraser, D.; Warren, L.; Aponte, J.; Zawistowski, M.; Liu, X.; Zhang, H.; Zhang, Y.; Li, J.; Li, Y.; Li, L.; Woollard, P.; Topp, S.; Hall, M. D.; Nangle, K.; Wang, J.; Abecasis, G.; Cardon, L. R.; Zollner, S.; Whittaker, J. C.; Chissoe, S. L.; Novembre, J.; Mooser, V. (17 May 2012). "An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People". Science. 337 (6090): 100–104. Bibcode:2012Sci...337..100N. doi:10.1126/science.1217876. PMC 4319976. PMID 22604722.

Panoutsopoulou, K.; Tachmazidou, I.; Zeggini, E. (6 August 2013). "In search of low-frequency and rare variants affecting complex traits". Human Molecular Genetics. 22 (R1): R16–R21. doi:10.1093/hmg/ddt376. PMC 3782074. PMID 23922232.

Lee, Seunggeun; Emond, Mary J.; Bamshad, Michael J.; Barnes, Kathleen C.; Rieder, Mark J.; Nickerson, Deborah A.; Christiani, David C.; Wurfel, Mark M.; Lin, Xihong (August 2012). "Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies". The American Journal of Human Genetics. 91 (2): 224–237. doi:10.1016/j.ajhg.2012.06.007. ISSN 0002-9297. PMC 3415556. PMID 22863193.

Lee, Seunggeung; Abecasis, Gonçalo R.; Boehnke, Michael; Lin, Xihong (July 2014). "Rare-Variant Association Analysis: Study Designs and Statistical Tests". The American Journal of Human Genetics. 95 (1): 5–23. doi:10.1016/j.ajhg.2014.06.009. ISSN 0002-9297. PMC 4085641. PMID 24995866.

Wu, Michael C.; Lee, Seunggeun; Cai, Tianxi; Li, Yun; Boehnke, Michael; Lin, Xihong (July 2011). "Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test". The American Journal of Human Genetics. 89 (1): 82–93. doi:10.1016/j.ajhg.2011.05.029. ISSN 0002-9297. PMC 3135811. PMID 21737059.

Asimit, Jennifer L.; Day-Williams, Aaron G.; Morris, Andrew P.; Zeggini, Eleftheria (2012). "ARIEL and AMELIA: testing for an accumulation of rare variants using next-generation sequencing data". Human Heredity. 73 (2): 84–94. doi:10.1159/000336982. ISSN 1423-0062. PMC 3477640. PMID 22441326.

Han, Fang; Pan, Wei (June 2010). "A Data-Adaptive Sum Test for Disease Association with Multiple Common or Rare Variants". Human Heredity. 70 (1): 42–54. doi:10.1159/000288704. ISSN 0001-5652. PMC 2912645. PMID 20413981.

Li, Xihao; Li, Zilin; Zhou, Hufeng; Gaynor, Sheila M.; Liu, Yaowu; Chen, Han; Sun, Ryan; Dey, Rounak; Arnett, Donna K.; Aslibekyan, Stella; Ballantyne, Christie M.; Bielak, Lawrence F.; Blangero, John; Boerwinkle, Eric; Bowden, Donald W.; Broome, Jai G; Conomos, Matthew P; Correa, Adolfo; Cupples, L. Adrienne; Curran, Joanne E.; Freedman, Barry I.; Guo, Xiuqing; Hindy, George; Irvin, Marguerite R.; Kardia, Sharon L. R.; Kathiresan, Sekar; Khan, Alyna T.; Kooperberg, Charles L.; Laurie, Cathy C.; Liu, X. Shirley; Mahaney, Michael C.; Manichaiku, Ani W.; Martin, Lisa W.; Mathias, Rasika A.; McGarvey, Stephen T.; Mitchell, Braxton D.; Montasser, May E.; Moore, Jill E.; Morrison3, Alanna C.; O’Connell, Jeffrey R.; Palmer, Nicholette D.; Pampana, Akhil; Peralta, Juan M.; Peyser, Patricia A.; Psaty, Bruce M.; Redline, Susan; Rice, Kenneth M.; Rich, Stephen S.; Smith, Jennifer A.; Tiwari, Hemant K.; Tsai, Michael Y.; Vasan, Ramachandran S.; Wang, Fei Fei; Weeks, Daniel E.; Weng, Zhiping; Wilson, James G.; Yanek, Lisa R.; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lipids Working Group; Neale, Benjamin M.; Sunyaev, Shamil R.; Abecasis, Gonçalo R.; Rotter, Jerome I.; Willer, Cristen J.; Peloso, Gina M.; Natarajan, Pradeep; Lin, Xihong (Sep 2020). "Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale". Nature Genetics. 52 (9): 969–983. doi:10.1038/s41588-020-0676-4. ISSN 1061-4036. PMC 7483769. PMID 32839606.{{cite journal}}: CS1 maint: numeric names: authors list (link)

Li, Zilin; Li, Xihao; Zhou, Hufeng; Gaynor, Sheila M.; Margaret, Sunitha Selvaraj; Arapoglou, Theodore; Qiuck, Corbin; Liu, Yaowu; Chen, Han; Sun, Ryan; Dey, Rounak; Arnett, Donna K.; Auer, Paul L.; Bielak, Lawrence F.; Bis, Joshua C.; Blackwell, Thomas W.; Blangero, John; Boerwinkle, Eric; Bowden, Donald W.; Brody, Jennifer A.; Cade, Brian E.; Conomos, Matthew P.; Correa, Adolfo; Cupples, L. Adrienne; Curran, Joanne E.; de Vries, Paul S.; Duggirala, Ravindranath; Franceschini, Nora; Freedman, Barry I.; Goring, Harald H.H.; Guo, Xiuqing; Kalyani, Rita R.; Kooperberg, Charles; Kral, Brian G.; Lange, Leslie A.; Lin, Bridget; Manichaikul, Ani; Martin, Lisa W.; Mathias, Rasika A.; Meigs, James B.; Mitchell, Braxton D.; Mitchell, Braxton D.; Montasser, May E.; Morrison, Alanna C.; Naseri, Take; O’Connell, Jeffrey R.; Palmer, Nicholette D.; Reupena, Muagututi’a Sefuiva; Rice, Kenneth M.; Rich, Stephen S.; Smith, Jennifer A.; Taylor, Kent D.; Taub, Margaret A.; Vasan, Ramachandran S.; Weeks, Daniel E.; Wilson, James G.; Yanek, Lisa R.; Zhao, Wei; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lipids Working Group; Rotter, Jerome I.; Willer, Cristen; Natarajan, Pradeep; Peloso, Gina M.; Lin, Xihong (2022). "A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies". Nature Methods. 19 (12): 1599–1611. doi:10.1038/s41592-022-01640-x. PMC 10008172. PMID 36303018. S2CID 243873361.

Li, Xihao; Quick, Corbin; Zhou, Hufeng; Gaynor, Sheila M.; Liu, Yaowu; Chen, Han; Selvaraj, Margaret Sunitha; Sun, Ryan; Dey, Rounak; Arnett, Donna K.; Bielak, Lawrence F.; Bis, Joshua C.; Blangero, John; Boerwinkle, Eric; Bowden, Donald W.; Brody, Jennifer A.; Cade, Brian E.; Correa, Adolfo; Cupples, L. Adrienne; Curran, Joanne E.; de Vries, Paul S.; Duggirala, Ravindranath; Freedman, Barry I.; Göring, Harald H. H.; Guo, Xiuqing; Haessler, Jeffrey; Kalyani, Rita R.; Kooperberg, Charles; Kral, Brian G.; Lange, Leslie A.; Manichaikul, Ani; Martin, Lisa W.; McGarvey, Stephen T.; Mitchell, Braxton D.; Montasser, May E.; Morrison, Alanna C.; Naseri, Take; O’Connell, Jeffrey R.; Palmer, Nicholette D.; Peyser, Patricia A.; Psaty, Bruce M.; Raffield, Laura M.; Redline, Susan; Reiner, Alexander P.; Reupena, Muagututi’a Sefuiva; Rice, Kenneth M.; Rich, Stephen S.; Sitlani, Colleen M.; Smith, Jennifer A.; Taylor, Kent D.; Vasan, Ramachandran S.; Willer, Cristen J.; Wilson, James G.; Yanek, Lisa R.; Zhao, Wei; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lipids Working Group; Rotter, Jerome I.; Natarajan, Pradeep; Peloso, Gina M.; Li, Zilin; Lin, Xihong (January 2023). "Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies". Nature Genetics. 55 (1): 154–164. doi:10.1038/s41588-022-01225-6. PMC 10084891.

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Rare variant (genetics) (English Wikipedia)