Search results for " genomi"

A deterministic simulation study of embryo marker-assisted selection for age at first calving in Nellore (Bos indicus) beef cattle

2007

Submitted by Guilherme Lemeszenski (guilherme@nead.unesp.br) on 2013-08-22T19:04:58Z No. of bitstreams: 1 S1415-47572007000400008.pdf: 85300 bytes, checksum: 7422029b120457123fb366c1bd71e758 (MD5) Made available in DSpace on 2013-08-22T19:04:58Z (GMT). No. of bitstreams: 1 S1415-47572007000400008.pdf: 85300 bytes, checksum: 7422029b120457123fb366c1bd71e758 (MD5) Previous issue date: 2007-01-01 Made available in DSpace on 2013-09-30T20:08:32Z (GMT). No. of bitstreams: 2 S1415-47572007000400008.pdf: 85300 bytes, checksum: 7422029b120457123fb366c1bd71e758 (MD5) S1415-47572007000400008.pdf.txt: 39461 bytes, checksum: 2796161439379a834535eeaff8aac2ba (MD5) Previous issue date: 2007-01-01 Submitt…

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.

2022

Interstitial deletions of the long arm of chromosome 12 are rare, with a dozen patients carrying a deletion in 12q21 being reported. Recently a critical region (CR) has been delimited and could be responsible for the more commonly described clinical features, such as developmental delay/intellectual disability, congenital genitourinary and brain malformations. Other, less frequent, clinical signs do not seem to be correlated to the proposed CR. We present seven new patients harboring non-recurrent deletions ranging from 1 to 18.5 Mb differentially scattered across 12q21. Alongside more common clinical signs, some patients have rarer features such as heart defects, hearing loss, hypotonia an…

The Population Genomics of Anopheles gambiae Species Complex: Progress and Prospects

2021

Anopheles gambiae sensu lato is a species complex containing principal malaria vectors such as An. gambiae sensu stricto, An. coluzzii, and An. arabiensis. Numerous studies have shown dynamic species hybridization among member of this complex makes them an ideal model for studying evolution and speciation as well as for applied vector biology. Applying a population genomics approach to the An. gambiae and An. coluzzii species group has led to a number of important and epidemiologically relevant insights including: (1) organization of genomic divergence into “islands of speciation”; (2) competing models of population origin of An. gambiae and An. Coluzzii; (3) description of asymmetric intro…

Filogenomica dei primati: evidenze dalla citogenetica molecolare

2010

Strategie formative sui medici potenziali prescrittori per il corretto uso dei test genomici: l'esperienza italiana

2013

Pressioni del mercato, politiche regolatorie, linee guida cliniche e domanda dei consumatori, sono tutti fattori che influiscono sulla conoscenza degli erogatori dell’assistenza sanitaria e sull'uso dei test genetici venduti e/o pubblicizzati direttamente ai consumatori. Obiettivo è presentare un innovativo programma pilota di istruzione e formazione sul corretto uso dei test genomici, dedicato ai potenziali prescrittori, nell'ambito di un progetto finanziato dal Centro Nazionale per il Controllo delle Malattie del Ministero della Salute. Un gruppo di esperti, rappresentanti delle sei regioni coinvolte nel progetto, ha definito i contenuti di un corso modulare concepito per essere somminist…

Trīs no antarktiskās ledus-brīvas augsnes jaunizdalīto Caudovirales kārtas bakteriofāgu raksturošana

2020

Darbā raksturoti trīs no antarktiskās ledus-brīvās augsnes paraugiem izolēti Caudovirales kārtas bakteriofāgi. Papildus tradicionālo mikro- un molekulārās bioloģijas metožu izmantošanai uzsvars tika likts uz in silico analīzēm. No Latvijas pirmās antarktiskās ekspedīcijas ietvaros ievāktajiem augsnes paraugiem tika izolētas raksturīgas baktērijas. Bakteriālie izolāti tika identificēti ar 16s rRNS gēna sekvenēšanas rezultātiem un bakteriofāgi tika atlasīti uz tādām identificētām baktēriju ģintīm, kurām vēl nebija aprakstīti to inficējošie vīrusi. Darba gaitā tika izolēti pirmie zināmie Sporosarcina sp. un Psychrobacillus sp. inficējošie bakteriofāgi. Izolētie bakteriofāgi tika morfoloģiski a…

Evolutionary Study of Disorder in Protein Sequences

2020

Intrinsically disordered proteins (IDPs) contain regions lacking intrinsic globular structure (intrinsically disordered regions, IDRs). IDPs are present across the tree of life, with great variability of IDR type and frequency even between closely related taxa. To investigate the function of IDRs, we evaluated and compared the distribution of disorder content in 10,695 reference proteomes, confirming its high variability and finding certain correlation along the Euteleostomi (bony vertebrates) lineage to number of cell types. We used the comparison of orthologs to study the function of disorder related to increase in cell types, observing that multiple interacting subunits of protein comple…

Data from: Low but contrasting neutral genetic differentiation shaped by winter temperature in European great tits

2015

Gene flow is usually thought to reduce genetic divergence and impede local adaptation by homogenising gene pools between populations. However, evidence for local adaptation and phenotypic differentiation in highly mobile species, experiencing high levels of gene flow, is emerging. Assessing population genetic structure at different spatial scales is thus a crucial step towards understanding mechanisms underlying intraspecific differentiation and diversification. Here, we studied the population genetic structure of a highly mobile species – the great tit Parus major – at different spatial scales. We analysed 884 individuals from 30 sites across Europe including 10 close-by sites (< 50 km)…

The transcriptome analysis of Strongyloides stercoralis L3i larvae reveals targets for intervention in a neglected disease.

2012

Background: Strongyloidiasis is one of the most neglected diseases distributed worldwide with endemic areas in developed countries, where chronic infections are life threatening. Despite its impact, very little is known about the molecular biology of the parasite involved and its interplay with its hosts. Next generation sequencing technologies now provide unique opportunities to rapidly address these questions. Principal Findings: Here we present the first transcriptome of the third larval stage of S. stercoralis using 454 sequencing coupled with semi-automated bioinformatic analyses. 253,266 raw sequence reads were assembled into 11,250 contiguous sequences, most of which were novel. 8037…

The rose and the name: the unresolved debate on biotechnological terms

2020

The largest survey on the perception of synthetic biology‐related disciplines (Porcar et al., 2019,EMBO Rep 20) recently revealed that the Spanish society does not have a very positive perception of the term synthetic biology. On the other hand, the terms biotechnology and even genetic engineering received relatively higher scores. The issue of nomenclature and perception is a classical one in science perception studies. Synthetic biologists have been debating their neologism (Synthetic Biology, from now on SB) for years. Even in a 2006 blog, Rob Carlson discussed the various labels for the new field, such as intentional biology, constructive biology, natural engineering, synthetic genomics…