Tarmo Puurand

TL;DR: This study demonstrates the feasibility of developing genome-wide maps of LD and shows a strong correlation between high LD and low recombination frequency in the extant genetic map, suggesting that historical and contemporary recombination rates are similar.

TL;DR: A study of 456 geographically diverse high-coverage Y chromosome sequences, including 299 newly reported samples, infer a second strong bottleneck in Y-chromosome lineages dating to the last 10 ky, and hypothesize that this bottleneck is caused by cultural changes affecting variance of reproductive success among males.

TL;DR: UNLABELLED MultiPLX is a new program for automatic grouping of PCR primers that can use many different parameters to estimate the compatibility of primers, such as primer-primer interactions, primer-product interactions, different in melting temperatures, difference in product length and the risk of generating alternative products from the template.

TL;DR: A computational method that counts the frequencies of unique k-mers in FASTQ-formatted genome data and uses this information to infer the genotypes of known variants, providing k-mer database that can be used for the simultaneous genotyping of approximately 30 million single nucleotide variants (SNVs), including >23,000 SNVs from Y chromosome.

TL;DR: It is found that CTNNA3 was associated with myositis and myopathies among individuals taking nonsteroidal anti-inflammatory oxicams and replicated this finding in an extended cohort of 706 individuals, illustrating that population-based WGS-coupled EHRs are a useful tool for biomarker discovery.