Sequence analysis

Shallow whole genome sequencing is well suited for the detection of chromosomal aberrations in human blastocysts

Objective: To add evidence that massive parallel sequencing (MPS) is a valuable substitute for array comparative genomic hybridization (arrayCGH) with a resolution that is more appropriate for preimplantation genetic diagnosis (PGD) in translocation carriers.

Design: Study of diagnostic accuracy.

Setting: University hospital.

Patient(s): Fifteen patients with a balanced structural rearrangement were included in the study: eight reciprocal translocations, four Robertsonian translocations, two inversions, and one insertional translocation.

EVORhA

EVORhA (Evolutionary Reconstruction of Haplotypes) is a quasi-species assembly method that allows reconstructing from short-read sequence data of a bacterial population, the haplotypes occurring in that population and the frequencies at which they occur. EVORhA can be used amongst others to reconstruct genome-wide haplotypes obtained from a mixed bacterial infection or to reconstruct the population dynamics of an evolving bacterial population from pooled sequence data.

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