Useful Reading

Genomic tools are increasingly important in many scientific fields, from medicine to molecular biology to anthropology. This page includes some reading material that I (Joe Pickrell) have found particularly useful while working in human genomics. This is not intended to be a comprehensive list, but rather a small set of papers and books that have stuck with me. Your mileage may vary.

The view from 20,000 feet

The eighth day of creation [parts 1 and 2]. Judson (1979). The history of the early days of molecular biology.

The emperor of all maladies. Mukherjee (2010). An alternately depressing and inspiring history of our understanding and treatment of cancer.

The immortal life of Henrietta Lacks. Skloot (2011). A fascinating account of the making of the first human cell line, and the scientific world at that time.

The art of controversy (alt. The art of being right). Schopenhauer (1831). As topical in 2015 as it presumably was in 1831.

Data analysis

The future of data analysis, Tukey (1961) [sections 1 and 8]. Tukey’s open-minded philosophy on how to analyze data is deeply refreshing.

Bayes factors, Kass and Raftery (1995). A straightforward account of the practical issues in measuring the statistical support for a model, with some nice examples.

The elements of statistical learning, Hastie et al. (2009). A modern classic on the statistical principles behind “machine learning”.

Human phenotypic variation

The future of genetic studies of complex human diseases. Risch and Merikangas (1996). At the time they were proposed by these authors, genome-wide association studies seemed like science fiction. About 20 years later, they’re routine.

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. The Wellcome Trust Case Control Consortium (2007). Thoughtful discussions about population structure, statistical significance, and all other aspects of genotype-phenotype association studies.

Population genetics methodology

Maximum-Likelihood Estimation of Evolutionary Trees from Continuous Characters. Felsenstein (1973). Inference of species and population trees.

Gene genealogies and the coalescent process. Hudson (1991). Essential reading on coalescent theory.

Inference of population structure using multilocus genotype data. Pritchard et al. (2000). The statistical model developed here for population genetics has been useful in many different fields.

Genomics and human history

Genetic structure of human populations, Rosenberg et al. (2002). A “big picture” overview of human population structure.

Genetic history of an archaic hominin group from Denisova Cave in Siberia. Reich et al. (2010). A fascinating part of human history was missing until the discovery and sequencing of this finger bone.

Origins and Genetic Legacy of Neolithic Farmers and Hunter-Gatherers in Europe. Skoglund et al. (2012). A bit of ancient genome sequence goes a long way.