Assessing allelic dropout and genotype reliability using maximum likelihood.

A growing number of population genetic studies utilize nuclear DNA microsatellite data from museum specimens and noninvasive sources. Genotyping errors are elevated in these low quantity DNA sources, potentially compromising the power and accuracy of the data. The most conservative method for addressing this problem is effective, but requires extensive replication of individual genotypes. In search of a more efficient method, we developed a maximum-likelihood approach that minimizes errors by estimating genotype reliability and strategically directing replication at loci most likely to harbor errors. The model assumes that false and contaminant alleles can be removed from the dataset and that the allelic dropout rate is even across loci. Simulations demonstrate that the proposed method marks a vast improvement in efficiency while maintaining accuracy. When allelic dropout rates are low (0-30%), the reduction in the number of PCR replicates is typically 40-50%. The model is robust to moderate violations of the even dropout rate assumption. For datasets that contain false and contaminant alleles, a replication strategy is proposed. Our current model addresses only allelic dropout, the most prevalent source of genotyping error. However, the developed likelihood framework can incorporate additional error-generating processes as they become more clearly understood.

[1]  B. Goossens,et al.  Plucked hair samples as a source of DNA: reliability of dinucleotide microsatellite genotyping , 1998, Molecular ecology.

[2]  R. Wayne,et al.  Molecular Genetics of Pre‐1940 Red Wolves , 1996 .

[3]  R. Wayne,et al.  Population genetics of ice age brown bears. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[4]  N. Mundy,et al.  Microsatellite variation and microevolution in the critically endangered San Clemente Island loggerhead shrike (Lanius ludovicianus mearnsi) , 1997, Proceedings of the Royal Society of London. Series B: Biological Sciences.

[5]  David Paetkau,et al.  Genetic tagging of free-ranging black and brown bears , 1999 .

[6]  Michael K. Schwartz,et al.  ESTIMATING ANIMAL ABUNDANCE USING NONINVASIVE DNA SAMPLING: PROMISE AND PITFALLS , 2000 .

[7]  P Taberlet,et al.  Reliable genotyping of samples with very low DNA quantities using PCR. , 1996, Nucleic acids research.

[8]  Paul L. Leberg,et al.  Biases associated with population estimation using molecular tagging , 2000 .

[9]  S. Bensch,et al.  Good genes, oxidative stress and condition–dependent sexual signals , 1999, Proceedings of the Royal Society of London. Series B: Biological Sciences.

[10]  L. Bernatchez,et al.  Stability of population structure and genetic diversity across generations assessed by microsatellites among sympatric populations of landlocked Atlantic salmon (Salmo salar L.) , 1999 .

[11]  C Boesch,et al.  Microsatellite scoring errors associated with noninvasive genotyping based on nuclear DNA amplified from shed hair , 1997, Molecular ecology.

[12]  P. Thompson,et al.  Molecular scatology: the use of molecular genetic analysis to assign species, sex and individual identity to seal faeces , 1997, Molecular ecology.

[13]  R. Hudson,et al.  Genetic tagging of humpback whales , 1997, Nature.

[14]  L. Waits,et al.  Noninvasive genetic tracking of the endangered Pyrenean brown bear population , 1997, Molecular ecology.

[15]  M. Waterman,et al.  A multiple-tubes approach for accurate genotyping of very small DNA samples by using PCR: statistical considerations. , 1992, American journal of human genetics.

[16]  P. Morin,et al.  Paternity exclusion in a community of wild chimpanzees using hypervariable simple sequence repeats , 1994, Molecular ecology.

[17]  M. Syvanen,et al.  Molecular tracking of mountain lions in the Yosemite Valley region in California: genetic analysis using microsatellites and faecal DNA , 2000, Molecular ecology.

[18]  H. Lewin,et al.  The Ghost of Genetic Diversity Past: Historical DNA Analysis of the Greater Prairie Chicken , 1998, The American Naturalist.

[19]  A. Kapuscinski,et al.  Historical analysis of genetic variation reveals low effective population size in a northern pike (Esox lucius) population. , 1997, Genetics.

[20]  L. Waits,et al.  Noninvasive genetic sampling: look before you leap. , 1999, Trends in ecology & evolution.

[21]  R. Wayne,et al.  Facts from feces revisited. , 1997, Trends in ecology & evolution.