Statistical properties of segregating sites

Theoretical Population Biology
Y X Fu


A mutation leading to a segregating site of a sample can be classified by the number of sequences in the sample that inherits the mutant nucleotide; it can also be classified by the frequencies of the two segregating nucleotides at the resulting segregating side. We define the size of a mutation to be the number of sequences in the sample that inherits the mutant nucleotide and the type of mutation (segregating site) to be the smallest value of the frequencies of segregating nucleotides. Each of these two classifications of mutations is analogous to allelic types in a sample of genes. Assuming the neutral Wright-Fisher model, we derived in this paper the mean and variance of the frequency of mutations of each size and type, and the covariance between the numbers of mutations of two different sizes and two different types. Potential applications of these results are discussed.


Dec 26, 2008·Briefings in Bioinformatics·Yuseob Kim, Thomas Wiehe
Feb 26, 2008·Molecular Biology and Evolution·Jian LuChung-I Wu
Oct 2, 2012·Molecular Biology and Evolution·Aida T Miró-Herrans, Connie J Mulligan
Nov 26, 2002·Molecular Biology and Evolution·N YuWen-Hsiung Li
Jul 26, 2002·Molecular Biology and Evolution·Scott H Williamson, Maria E Orive
Aug 13, 2009·BMC Bioinformatics·Bjarne Knudsen, Michael M Miyamoto
Jun 26, 2012·BMC Evolutionary Biology·Marius RoestiDaniel Berner
Mar 19, 2013·BMC Genomics·Anna Esteve-CodinaM Pérez-Enciso
Sep 16, 2011·Genome Biology·Gabor T Marth1000 Genomes Project
Oct 27, 2010·PLoS Computational Biology·Gaurav BhatiaVineet Bafna
Aug 31, 2011·PLoS Genetics·Chip Stewart1000 Genomes Project
Sep 7, 2005·Genetics·Scotland C LemanMarcy K Uyenoyama
Sep 5, 2006·Genetics·John E Pool, Charles F Aquadro
Jun 20, 2008·Genetics·Guillaume Achaz
Aug 22, 2008·Genetics·Daniel Zivković, Thomas Wiehe
Jul 9, 2010·Genetics·Luca FerrettiSebastián E Ramos-Onsins
Jun 5, 2012·Genetics·Luca FerrettiSebastián E Ramos-Onsins
Nov 4, 2008·Statistical Applications in Genetics and Molecular Biology·Asger HobolthCarsten Wiuf
Jul 14, 2004·Proceedings of the National Academy of Sciences of the United States of America·Hideki Innan, Yuseob Kim
Sep 27, 2000·Proceedings of the National Academy of Sciences of the United States of America·Z ZhaoW H Li
Jun 14, 2013·Computational and Mathematical Methods in Medicine·Jo Nishino, Shuhei Mano
Apr 8, 2015·Nature Genetics·Xiaoming Liu, Yun-Xin Fu
Feb 26, 2016·Journal of Human Genetics·Koichiro HigasaFumihiko Matsuda
Jul 1, 2016·Proceedings of the National Academy of Sciences of the United States of America·Brian J ArnoldLevi Yant
Jan 24, 2006·Theoretical Population Biology·Yun-Xin Fu
Feb 12, 2017·Genome Biology and Evolution·Christoph Theunert, Montgomery Slatkin
Apr 7, 2012·Scientific Reports·Yungang HePan-Asia Snp Consortium
Oct 6, 2017·Molecular Biology and Evolution·Katherine M Siewert, Benjamin F Voight
Oct 2, 2018·Genes & Genetic Systems·Naoko T FujitoNaoyuki Takahata
Jul 17, 2008·Molecular Ecology·P PavlidisWolfgang Stephan
Feb 20, 2009·American Journal of Physical Anthropology·Jeffrey C LongMeghan E Healy
Nov 17, 2009·Molecular Ecology·K Ryo Takahasi
May 14, 2011·Molecular Ecology Resources·Wolfgang Stephan
Mar 28, 2016·Genetics·Simon H MartinChris D Jiggins
Dec 31, 2015·Genetics·Daniel A SkellyEric A Stone
Jun 16, 2009·Journal of Evolutionary Biology·J P Jarvis, J M Cheverud
Jan 10, 2019·Evolutionary Applications·Mirte BosseMartien A M Groenen
Jul 7, 2017·Genetics·Luca FerrettiSebastián E Ramos-Onsins
Apr 18, 2019·Genome Research·Roven Rommel FuentesNickolai Alexandrov
Mar 16, 2019·Evolution; International Journal of Organic Evolution·Mauro SantosDavid M Althoff
Mar 30, 2010·Bulletin of Mathematical Biology·Xiaohui Xie
May 3, 2019·Genetic Epidemiology·Elizabeth A Thompson
Oct 2, 2012·Journal of Evolutionary Biology·F Clemente, C Vogl
Jun 8, 2014·Genetics·Alan R Rogers
Dec 14, 2017·Evolution; International Journal of Organic Evolution·Artur Rego-CostaLuis-Miguel Chevin
Dec 10, 2019·Evolution; International Journal of Organic Evolution·Tadeusz J Kawecki
Nov 9, 2019·G3 : Genes - Genomes - Genetics·Michael LynchTakahiro Maruki
Jun 14, 2018·Statistical Applications in Genetics and Molecular Biology·Jere Koskela
Jun 17, 2020·Evolution; International Journal of Organic Evolution·Ryo Yamaguchi, Sarah P Otto
May 23, 2020·Ecology·Antony M Dean, Nadav M Shnerb
May 10, 2020·Evolution; International Journal of Organic Evolution·Diala Abu Awad, Denis Roze
Apr 28, 2006·Evolution; International Journal of Organic Evolution·Tove H JorgensenStefan Andersson
Jul 3, 2020·Evolution; International Journal of Organic Evolution·Gil J B Henriques, Matthew M Osmond
Oct 3, 2020·Evolutionary Applications·Nina Marchi, Laurent Excoffier
Feb 18, 2016·Genetics·Jeffrey P SpenceYun S Song
Nov 9, 2018·Frontiers in Genetics·Luca FerrettiSebastián E Ramos-Onsins
Jul 8, 2020·Pathogens·Paul A Fuerst, Gregory C Booton
Jun 15, 2007·Molecular Biology and Evolution·Kai ZengChung-I Wu
May 16, 2014·Journal of Mathematical Biology·Raazesh SainudiinAmandine Véber
Jun 19, 2013·Genetics·Roy RonenVineet Bafna
Jan 11, 2016·Journal of Mathematical Biology·Cécile DelaporteAmaury Lambert
Jun 21, 2020·Genes·Kumiko V NishiyamaJun Gojobori
May 21, 2010·The Journal of Immunology : Official Journal of the American Association of Immunologists·Tim DowningDaniel G Bradley
May 9, 2015·Genetics·Jochen BlathMaite Wilke-Berenguer
Jun 19, 2016·G3 : Genes - Genomes - Genetics·Way SungMichael Lynch
May 19, 2012·Science·Jacob A TennessenNHLBI Exome Sequencing Project
Jun 1, 2012·Advances in Applied Probability·Anand BhaskarYun S Song
Nov 17, 2019·Molecular Ecology·Aline Magdalena LeeBernt-Erik Saether
Oct 10, 2013·Molecular Ecology·Luca FerrettiM Pérez-Enciso
Dec 30, 2014·Ecology and Evolution·Alexander I Putman, Ignazio Carbone
Nov 24, 2016·Evolutionary Applications·Marty KardosFred W Allendorf
Sep 26, 2013·Evolutionary Applications·Trishna DuttaJohn Seidensticker
Feb 14, 2021·Nature Communications·Arya IranmehrGabriel G Haddad
Mar 8, 2020·Theoretical Population Biology·J Wakeley
Apr 11, 2020·Theoretical Population Biology·Noah A Rosenberg
Apr 13, 2020·Theoretical Population Biology·Elise KerdoncuffGuillaume Achaz
Mar 6, 2021·Evolutionary Applications·Nathan C LaymanScott L Nuismer
Jun 3, 2020·Theoretical Population Biology·Filippo Disanto, Thomas Wiehe
Feb 23, 2021·Ecology Letters·Ronald D BassarDavid N Reznick
Feb 19, 2021·Evolution; International Journal of Organic Evolution·Donald M Waller

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