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Mauldin, D. E.

Publications and source records attributed to Mauldin, D. E..

2 recordsLinked to original sources

Scale-invariant geometric data analysis (SIGDA) provides robust, detailed visualizations of human ancestry specific to individuals and populations

Scale invariance is a common property of physical laws and a key concept in perspective drawing, which aims to provide a meaningful two-dimensional representation of a more complex, three-dimensional scene. Here we describe Scale Invariant Geometric Data Analysis (SIGDA), a new, general exploratory data analysis (EDA) method based on normalization of data to scale invariance. We discuss similarities and differences between SIGDA and two widely-used EDA methods, Correspondence Analysis (CA) and Principal Components Analysis (PCA). We then illustrate SIGDAs ability to analyze and visualize population structure relationships within the data that inspired its development: genetic marker data, in which context PCA is considered a standard method. We show that SIGDA provides significant advantages over PCA of the same data, including: (a) robust detection and separation of a larger number of population axes, leading to (b) better separation of annotated populations; (c) separation of an independent allele frequency axis interpretable as a proxy for allele age, (d) visualization of marker flow between populations (population history), and (d) robust detection and visualization of relationships between closely-related individuals and among family groups. Although this illustration focuses on a specific task, SIGDA is a general-purpose EDA method and derives its advantages from its novel approach to fundamental issues in data analysis, rather than clever sampling or other task-specific methodology.\n\nOne Sentence SummaryWe illustrate the advantages of Scale Invariant Geometric Data Analysis (SIGDA), a new exploratory data analysis method similar to PCA, by applying SIGDA to derive detailed, robust visualizations of the complex history of human population structure from a large sample of single nucleotide variants.

bioinformatics

Ultrafast comparison of personal genomes

We present an ultra-fast method for comparing personal genomes. We transform the standard genome representation (lists of variants relative to a reference) into genome fingerprints that can be readily compared across sequencing technologies and reference versions. Because of their reduced size, computation on the genome fingerprints is fast and requires little memory. This enables scaling up a variety of important genome analyses, including quantifying relatedness, recognizing duplicative sequenced genomes in a set, population reconstruction, and many others. The original genome representation cannot be reconstructed from its fingerprint; the method thus has significant implications for privacy-preserving genome analytics.

bioinformatics