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Accurate Whole Human Genome Sequencing using Reversible Terminator Chemistry
TLDR
An approach that generates several billion bases of accurate nucleotide sequence per experiment at low cost is reported, effective for accurate, rapid and economical whole-genome re-sequencing and many other biomedical applications.
Mapping copy number variation by population scale genome sequencing
TLDR
A map of unbalanced SVs is constructed based on whole genome DNA sequencing data from 185 human genomes, integrating evidence from complementary SV discovery approaches with extensive experimental validations, and serves as a resource for sequencing-based association studies.
Revising the human mutation rate: implications for understanding human evolution
TLDR
The implications of a lower-than-expected mutation rate in relation to the timescale of human evolution are discussed.
BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data
TLDR
BCFtools/RoH is presented and evaluated, an extension to the BCFtools software package, that detects regions of autozygosity in sequencing data, in particular exome data, using a hidden Markov model and it is shown that it has higher sensitivity and specificity than existing methods under a range of sequencing error rates and levels of autozykgosity.
A large genome center's improvements to the Illumina sequencing system
TLDR
A set of improvements are described to the standard Illumina protocols to make the library preparation more reliable in a high-throughput environment, to reduce bias, tighten insert size distribution and reliably obtain high yields of data.
Insights into hominid evolution from the gorilla genome sequence
TLDR
A comparison of protein coding genes reveals approximately 500 genes showing accelerated evolution on each of the gorilla, human and chimpanzee lineages, and evidence for parallel acceleration, particularly of genes involved in hearing.
Insights into human genetic variation and population history from 929 diverse genomes
TLDR
The authors' study adds data about African, Oceanian, and Amerindian populations and indicates that diversity tends to result from differences at the single-nucleotide level rather than copy number variation.
Chimpanzee genomic diversity reveals ancient admixture with bonobos
TLDR
It is found that chimpanzee population substructure makes genetic information a good predictor of geographic origin at country and regional scales and also provides population-specific genetic markers that may be valuable for conservation efforts.
Insights into human genetic variation and population history from 929 diverse genomes
TLDR
Analyses of high-coverage genome sequences from 54 diverse human populations reveal an excess of previously undocumented private genetic variation in southern and central Africa and in Oceania and the Americas, but an absence of fixed, private variants between major geographical regions.
Destruction of protoplanetary discs in the Orion Nebula Cluster
We use numerical N-body simulations of the Orion Nebula Cluster (ONC) to investigate the destruction of protoplanetary discs by close stellar encounters and UV radiation from massive stars. The
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