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1.
IEEE/ACM Trans Comput Biol Bioinform ; 18(6): 2136-2143, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-31722482

RESUMO

Maximum parsimony reconciliation is a fundamental technique for studying the evolutionary histories of pairs of entities such as genes and species, parasites and hosts, and species and their biogeographical habitats. In these contexts, reconciliation is generally performed using the duplication-transfer-loss (DTL) model in a maximum parsimony framework. While efficient maximum parsimony reconciliation algorithms are known for the DTL model, the number of such reconciliations can grow exponentially with the sizes of the two phylogenetic trees. Choosing a maximum parsimony reconciliation arbitrarily may lead to conclusions that are not supported, and may even be contradicted, by other equally optimal reconciliations. This paper addresses the fundamental problem of how well a single reconciliation can represent the entire space of optimal reconciliations.


Assuntos
Biologia Computacional/métodos , Evolução Molecular , Duplicação Gênica/genética , Modelos Genéticos , Filogenia , Algoritmos
2.
J Hum Reprod Sci ; 9(3): 187-193, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27803587

RESUMO

AIM: To estimate the prevalence of chromosomal abnormalities and Y chromosome microdeletion among men with azoospermia and severe oligozoospermia and its correlation with successful surgical sperm retrieval. SETTING AND DESIGN: A prospective study in a tertiary level infertility unit. MATERIALS AND METHODS: In a prospective observation study, men with azoospermia and severe oligozoospermia (concentration <5 million/ml) attending the infertility center underwent genetic screening. Peripheral blood karyotype was done by Giemsa banding. Y chromosome microdeletion study was performed by a multiplex polymerase chain reaction. RESULTS: The study group consisted of 220 men, 133 of whom had azoospermia and 87 had severe oligozoospermia. Overall, 21/220 (9.5%) men had chromosomal abnormalities and 13/220 (5.9%) men had Y chromosome microdeletions. Chromosomal abnormalities were seen in 14.3% (19/133) of azoospermic men and Y chromosome microdeletions in 8.3% (11/133). Of the 87 men with severe oligozoospermia, chromosomal abnormalities and Y chromosome microdeletions were each seen in 2.3% (2/87). Testicular sperm aspiration was done in 13 men and was successful in only one, who had a deletion of azoospermia factor c. CONCLUSIONS: Our study found a fairly high prevalence of genetic abnormality in men with severe semen abnormalities and a correlation of genetic abnormalities with surgical sperm retrieval outcomes. These findings support the need for genetic screening of these men prior to embarking on surgical sperm retrieval and assisted reproductive technology intracytoplasmic sperm injection.

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