2 documents found, page 1 of 1
Whole-genome DNA sequencing: the key to detecting a sarcomeric mutation in a ‘f...
Gomes, Ana Catarina; Barbosa, Pedro Santos; Coutinho, Ana; Cruz, Inês; Carmo-Fonseca, Maria; Lopes, Luís RochaThe authors report the clinical and genetic investigation of a family with hypertrophic cardiomyopathy (HCM). The individuals described are three affected first-degree relatives (father, daughter and son), one affected niece and unaffected nephew and niece. Those affected all share a very similar phenotype consisting of asymmetric HCM, with hypertrophy particularly affecting the septum and the anterior wall, an...
Taxonomic and functional analysis of metagenomes
Barbosa, Pedro SantosOver the years, metagenomics has demonstrated to play an essential role on the study of the microorganisms that live in microbial communities, particularly those who inhabit the human body. Several bioinformatic tools and pipelines have been developed, but usually they only address one question: "Who is there?" or "What are they doing?". This work aimed to develop a computational framework to answer the two que...