bioRxiv ScienceSearch

Biology subjects

Dyer, T. D.

Publications and source records attributed to Dyer, T. D..

3 recordsLinked to original sources

Inferring identical by descent sharing of sample ancestors promotes high resolution relative detection

As genetic datasets increase in size, the fraction of samples with one or more close relatives grows rapidly, resulting in sets of mutually related individuals. We present DRUID--Deep Relatedness Utilizing Identity by Descent--a method that works by inferring the identical by descent (IBD) sharing profile of an ungenotyped ancestor of a set of close relatives. Using this IBD profile, DRUID infers relatedness between unobserved ancestors and more distant relatives, thereby combining information from multiple samples to remove one or more generations between the deep relationships to be identified. DRUID constructs sets of close relatives by detecting full siblings and also uses a novel approach to identify the aunts/uncles of two or more siblings, recovering 92.2% of real aunts/uncles with zero false positives. In real and simulated data, DRUID correctly infers up to 10.5% more relatives than PADRE when using data from two sets of distantly related siblings, and 10.7-31.3% more relatives given two sets of siblings and their aunts/uncles. DRUID frequently infers relationships either correctly or within one degree of the truth, with PADRE classifying 43.3-58.3% of tenth degree relatives in this way compared to 79.6-96.7% using DRUID.

genetics

A performance assessment of relatedness inference methods using genome-wide data from thousands of relatives

Inferring relatedness from genomic data is an essential component of genetic association studies, population genetics, forensics, and genealogy. While numerous methods exist for inferring relatedness, thorough evaluation of these approaches in real data has been lacking. Here, we report an assessment of 12 state-of-the-art pairwise relatedness inference methods using a dataset with 2,485 individuals contained in several large pedigrees that span up to six generations. We find that all methods have high accuracy (~92% - 99%) when detecting first and second degree relationships, but their accuracy dwindles to less than 43% for seventh degree relationships. However, most IBD segment-based methods inferred seventh degree relatives correct to within one relatedness degree for more than 76% of relative pairs. Overall, the most accurate methods are ERSA and approaches that compute total IBD sharing using the output from GERMLINE and Refined IBD to infer relatedness. Combining information from the most accurate methods provides little accuracy improvement, indicating that novel approaches--such as new methods that leverage relatedness signals from multiple samples--are needed to achieve a sizeable jump in performance.

genetics

Genetic variation and gene expression across multiple tissues and developmental stages in a non-human primate

By analyzing multi-tissue gene expression and genome-wide genetic variation data in samples from a vervet monkey pedigree, we generated a transcriptome resource and produced the first catalogue of expression quantitative trait loci (eQTLs) in a non-human primate model. This catalogue contains more genome-wide significant eQTLs, per sample, than comparable human resources, and reveals sex and age-related expression patterns. Findings include a master regulatory locus that likely plays a role in immune function, and a locus regulating hippocampal long non-coding RNAs (lncRNAs), whose expression correlates with hippocampal volume. This resource will facilitate genetic investigation of quantitative traits, including brain and behavioral phenotypes relevant to neuropsychiatric disorders.

genetics