Skip to main content
Top

2016 | OriginalPaper | Chapter

On Things Not Seen

Activate our intelligent search to find suitable subject content or patents.

search-config
loading …

Abstract

Some statistical observations are frequently dismissed as “marginal” or even “oddities” but are far from such. On the contrary, they provide insights that lead to a better understanding of mechanisms which logically should exist but for which evidence is missing. We consider three case studies of probabilistic models in evolution, genetics and cancer. First, ascertainment bias in evolutionary genetics, arising when comparison between two or more species is based on genetic markers discovered in one of these species. Second, quasistationarity, i.e., probabilistic equilibria arising conditionally on non-absorption. Since evolution is also the history of extinctions (which are absorptions), this is a valid field of study. Third, inference concerning unobservable events in cancer, such as the appearance of the first malignant cell, or the first micrometastasis. The topic is vital for public health of aging societies. We try to adhere to mathematical rigor, but avoid professional jargon, with emphasis on the wider context.

Dont have a licence yet? Then find out more about our products and how to get one now:

Springer Professional "Wirtschaft+Technik"

Online-Abonnement

Mit Springer Professional "Wirtschaft+Technik" erhalten Sie Zugriff auf:

  • über 102.000 Bücher
  • über 537 Zeitschriften

aus folgenden Fachgebieten:

  • Automobil + Motoren
  • Bauwesen + Immobilien
  • Business IT + Informatik
  • Elektrotechnik + Elektronik
  • Energie + Nachhaltigkeit
  • Finance + Banking
  • Management + Führung
  • Marketing + Vertrieb
  • Maschinenbau + Werkstoffe
  • Versicherung + Risiko

Jetzt Wissensvorsprung sichern!

Springer Professional "Technik"

Online-Abonnement

Mit Springer Professional "Technik" erhalten Sie Zugriff auf:

  • über 67.000 Bücher
  • über 390 Zeitschriften

aus folgenden Fachgebieten:

  • Automobil + Motoren
  • Bauwesen + Immobilien
  • Business IT + Informatik
  • Elektrotechnik + Elektronik
  • Energie + Nachhaltigkeit
  • Maschinenbau + Werkstoffe




 

Jetzt Wissensvorsprung sichern!

Springer Professional "Wirtschaft"

Online-Abonnement

Mit Springer Professional "Wirtschaft" erhalten Sie Zugriff auf:

  • über 67.000 Bücher
  • über 340 Zeitschriften

aus folgenden Fachgebieten:

  • Bauwesen + Immobilien
  • Business IT + Informatik
  • Finance + Banking
  • Management + Führung
  • Marketing + Vertrieb
  • Versicherung + Risiko




Jetzt Wissensvorsprung sichern!

Literature
2.
go back to reference Amos W et al (2003) Directional evolution of size coupled with ascertainment bias for variation in drosophila microsatellites. Mol Biol Evol 20:660–662CrossRef Amos W et al (2003) Directional evolution of size coupled with ascertainment bias for variation in drosophila microsatellites. Mol Biol Evol 20:660–662CrossRef
3.
go back to reference Bercu B, Blandin V (2014) Limit theorems for bifurcating integer-valued autoregressive processes. Statistical inference for stochastic processes, pp 1–35 Bercu B, Blandin V (2014) Limit theorems for bifurcating integer-valued autoregressive processes. Statistical inference for stochastic processes, pp 1–35
4.
go back to reference Bromham L, Rambaut A, Harvey PH (1996) Determinants of rate variation in mammalian DNA sequence evolution. J Mol Evol 43:610–621CrossRef Bromham L, Rambaut A, Harvey PH (1996) Determinants of rate variation in mammalian DNA sequence evolution. J Mol Evol 43:610–621CrossRef
5.
go back to reference Brown PC, Beverley SM, Schimke RT (1981) Relationship of amplified dihydrofolate reductase genes to double minute chromosomes in unstably resistant mouse fibroblast cell lines. Mol Cell Biol 1:1077–1083MATH Brown PC, Beverley SM, Schimke RT (1981) Relationship of amplified dihydrofolate reductase genes to double minute chromosomes in unstably resistant mouse fibroblast cell lines. Mol Cell Biol 1:1077–1083MATH
6.
go back to reference Chen X et al (2014) Modeling the natural history and detection of lung cancer based on smoking behavior. PloS one 9(4):e93430CrossRefMATH Chen X et al (2014) Modeling the natural history and detection of lung cancer based on smoking behavior. PloS one 9(4):e93430CrossRefMATH
7.
go back to reference Cooper G, Rubinsztein DC, Amos W (1998) Ascertainment bias cannot entirely account for human microsatellites being longer than their chimpanzee homologues. Hum Mol Genet 7:1425–1429CrossRef Cooper G, Rubinsztein DC, Amos W (1998) Ascertainment bias cannot entirely account for human microsatellites being longer than their chimpanzee homologues. Hum Mol Genet 7:1425–1429CrossRef
8.
go back to reference Foy M et al (2011) Modeling the mortality reduction due to computed tomography screening for lung cancer. Cancer 117(12):2703–2708CrossRef Foy M et al (2011) Modeling the mortality reduction due to computed tomography screening for lung cancer. Cancer 117(12):2703–2708CrossRef
9.
go back to reference Goldstein DB, Schlotterer C (1999) Microsatellites: evolution and applications, pp 1–368 Goldstein DB, Schlotterer C (1999) Microsatellites: evolution and applications, pp 1–368
10.
go back to reference Gorlov IP, Kimmel M, Amos CI (2006) Strength of the purifying selection against different categories of the point mutations in the coding regions of the human genome. Hum Mol Genet 15:1143–1150CrossRef Gorlov IP, Kimmel M, Amos CI (2006) Strength of the purifying selection against different categories of the point mutations in the coding regions of the human genome. Hum Mol Genet 15:1143–1150CrossRef
11.
go back to reference Gorlova OY et al (2003) Genetic susceptibility for lung cancer: interactions with gender and smoking history and impact on early detection policies. Hum Hered 56:139–145CrossRef Gorlova OY et al (2003) Genetic susceptibility for lung cancer: interactions with gender and smoking history and impact on early detection policies. Hum Hered 56:139–145CrossRef
12.
go back to reference Gorlova OY, Kimmel M, Henschke C (2001) Modeling of long-term screening for lung carcinoma. Cancer 92:1531–1540CrossRef Gorlova OY, Kimmel M, Henschke C (2001) Modeling of long-term screening for lung carcinoma. Cancer 92:1531–1540CrossRef
13.
go back to reference Iwanaszko M, Brasier AR, Kimmel M (2012) The dependence of expression of NF-\(\kappa \)B-dependent genes: statistics and evolutionary conservation of control sequences in the promoter and in the 3’ UTR. BMC Genomics 13:182CrossRef Iwanaszko M, Brasier AR, Kimmel M (2012) The dependence of expression of NF-\(\kappa \)B-dependent genes: statistics and evolutionary conservation of control sequences in the promoter and in the 3’ UTR. BMC Genomics 13:182CrossRef
14.
go back to reference Kimmel M (1997) Quasistationarity in a branching model of division-within-division. In: Classical and modern branching processes (Minneapolis, MN, 1994), pp 157–164. Springer, New York. IMA Vol Math Appl 84 Kimmel M (1997) Quasistationarity in a branching model of division-within-division. In: Classical and modern branching processes (Minneapolis, MN, 1994), pp 157–164. Springer, New York. IMA Vol Math Appl 84
15.
go back to reference Kimmel M, Axelrod DE (1990) Mathematical models of gene amplification with applications to cellular drug resistance and tumorigenicity. Genetics 125:633–644 Kimmel M, Axelrod DE (1990) Mathematical models of gene amplification with applications to cellular drug resistance and tumorigenicity. Genetics 125:633–644
16.
go back to reference Kimmel M, Axelrod DE (2015) Branching processes in biology (2nd edn, extended). Springer, Heidelberg Kimmel M, Axelrod DE (2015) Branching processes in biology (2nd edn, extended). Springer, Heidelberg
17.
go back to reference Kimmel M et al (1996) Dynamics of repeat polymorphisms under a forward-backward mutation model: within-and between-population variability at microsatellite loci. Genetics 143:549–555 Kimmel M et al (1996) Dynamics of repeat polymorphisms under a forward-backward mutation model: within-and between-population variability at microsatellite loci. Genetics 143:549–555
18.
go back to reference Kimmel M, Gorlova OY, Henschke CI (2004) Modeling lung cancer screening. Recent advances in quantitative methods in cancer and human health risk assessment, pp 161–175 Kimmel M, Gorlova OY, Henschke CI (2004) Modeling lung cancer screening. Recent advances in quantitative methods in cancer and human health risk assessment, pp 161–175
19.
go back to reference Li B, Kimmel M (2013) Factors influencing ascertainment bias of microsatellite allele sizes: impact on estimates of mutation rates. Genetics 195:563–572 Li B, Kimmel M (2013) Factors influencing ascertainment bias of microsatellite allele sizes: impact on estimates of mutation rates. Genetics 195:563–572
20.
go back to reference Peng B, Kimmel M (2005) simuPOP: a forward-time population genetics simulation environment. Bioinformatics 21:3686–3687CrossRef Peng B, Kimmel M (2005) simuPOP: a forward-time population genetics simulation environment. Bioinformatics 21:3686–3687CrossRef
22.
go back to reference Schimke RT (ed) (1982) Gene amplification, vol 317. Cold Spring Harbor Laboratory, New York Schimke RT (ed) (1982) Gene amplification, vol 317. Cold Spring Harbor Laboratory, New York
23.
go back to reference Vowles EJ, Amos W (2006) Quantifying ascertainment bias and species-specific length differences in human and chimpanzee microsatellites using genome sequences. Mol Biol Evol 23:598–607CrossRef Vowles EJ, Amos W (2006) Quantifying ascertainment bias and species-specific length differences in human and chimpanzee microsatellites using genome sequences. Mol Biol Evol 23:598–607CrossRef
24.
Metadata
Title
On Things Not Seen
Author
Marek Kimmel
Copyright Year
2016
DOI
https://doi.org/10.1007/978-3-319-18781-5_10

Premium Partner