Technical Note on the quality of DNA sequencing for the molecular characterisation of genetically modified plants
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Non peer reviewed
Technical Note on the quality of DNA sequencing for the molecular characterisation of genetically modified plants
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Non peer reviewed
A rare loss-of function variant of ADAM17 is associated with late-onset familial Alzheimer disease
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Common variants of about 20 genes contributing to AD risk have so far been identified through genome-wide association studies (GWAS). However, there is still a large proportion of heritability that might be explained by rare but functionally important variants. One of the so far identified genes with rare AD causing variants is ADAM10. Using whole-...
INTU -related oral-facial-digital syndrome type VI: a confirmatory report
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Oral-facial-digital (OFD) syndromes are a subgroup of ciliopathies distinguished by the co-occurrence of hamartomas and/or multiple frenula of the oral region and digital anomalies. Several clinical forms of OFD are distinguished by their associated anomalies and/or inheritance patterns, and at least 20 genetic types of OFD have been delineated. We...
INTU -related oral-facial-digital syndrome type VI: a confirmatory report
...
Oral-facial-digital (OFD) syndromes are a subgroup of ciliopathies distinguished by the co-occurrence of hamartomas and/or multiple frenula of the oral region and digital anomalies. Several clinical forms of OFD are distinguished by their associated anomalies and/or inheritance patterns, and at least 20 genetic types of OFD have been delineated. We...
INTU -related oral-facial-digital syndrome type VI: a confirmatory report
...
Oral-facial-digital (OFD) syndromes are a subgroup of ciliopathies distinguished by the co-occurrence of hamartomas and/or multiple frenula of the oral region and digital anomalies. Several clinical forms of OFD are distinguished by their associated anomalies and/or inheritance patterns, and at least 20 genetic types of OFD have been delineated. We...
INTU -related oral-facial-digital syndrome type VI: a confirmatory report
...
Oral-facial-digital (OFD) syndromes are a subgroup of ciliopathies distinguished by the co-occurrence of hamartomas and/or multiple frenula of the oral region and digital anomalies. Several clinical forms of OFD are distinguished by their associated anomalies and/or inheritance patterns, and at least 20 genetic types of OFD have been delineated. We...
Ioncopy: an R Shiny app to call copy number alterations in targeted NGS data.
Published in BMC bioinformatics
Ioncopy facilitates calling of CNAs in a cohort of tumors tissues with or without using normal (germline) DNA controls.
Exploring bacterial communities in diversified aquaponic systems
In 2030, the world’s population should reach 8.3 billion people. It is thus necessary to find intensive yet sustainable food production methods to feed this growing population and aquaponics could contribute to it.. Aquaponics is defined as a combination of hydroponic and aquaculture techniques and seems to be a promising technology to meet this re...
Artificial intelligence used in genome analysis studies
Published in The EuroBiotech Journal
Next Generation Sequencing (NGS) or deep sequencing technology enables parallel reading of multiple individual DNA fragments, thereby enabling the identification of millions of base pairs in several hours. Recent research has clearly shown that machine learning technologies can efficiently analyse large sets of genomic data and help to identify nov...
