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Biology subjects

Ferrante, S. P.

Publications and source records attributed to Ferrante, S. P..

2 recordsLinked to original sources

Phasing of the 'Wonderful' Pomegranate Genome Using Haploid DNA Extracted from Pollen Grains

The scientific and commercial interest in pomegranate (Punica granatum L.) cultivation has increased noticeably during the last two decades. Because of the high concentration of bioactive compounds and its promising nutraceutical properties, pomegranate has been defined as a functional food. In order to develop advanced genomic tools to improve pomegranate breeding program efficiency, we present the chromosome-scale and haplotype-resolved genome assembly of Wonderful, a pomegranate cultivar widely grown around the world. DNA isolated from diploid leaf tissues was sequenced using long read sequencing technology (PacBio and Nanopore), while DNA extracted from haploid pollen grains was sequenced using a short-reads platform (Illumina). Genomic data from 11 single haploid gamete cells were analyzed using the R package called Hapi to phase the genome. The final genome assembly size was of 372.51 Mbp anchored to eight pairs of homologous chromosomes. The present study provides an insight on the adoption of an innovative and efficient approach for the assembly of haplotype-resolved genomes, which enables a higher resolution of DNA variant detection and offers the opportunity to investigate crossover events in single gamete cells during meiosis.

genomics↗

Inference of Chromosome-length Haplotypes Using Genomic Data of Three to Five Single Gametes

Knowledge of chromosome-length haplotypes will not only advance our understanding of the relationship between DNA and phenotypes, but also promote a variety of genetic applications. Here we present Hapi, an innovative method for chromosomal haplotype inference using only 3 to 5 gametes. Hapi outperformed all existing haploid-based phasing methods in terms of accuracy, reliability, and cost efficiency in both simulated and real gamete datasets. This highly cost-effective phasing method will make large-scale haplotype studies feasible to facilitate human disease studies and plant/animal breeding. In addition, Hapi can detect meiotic crossovers in gametes, which has promise in the diagnosis of abnormal recombination activity in human reproductive cells.

bioinformatics↗