Your English writing platform
Discover LudwigExact(28)
All the CNVs were identified experimentally except the CNVs from DECIPHER which were retrieved from the DECIPHER database.
Firth, H.V. et al. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Firth HV, Richards SM, Bevan AP, Clayton S, Corpas M, Rajan D, et al. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
In patients with isolated-sporadic AVSD we identified two large unique deletions outside of chromosome 21 not seen in the expanded set of 8,635 controls, each overlapping with larger deletions associated with similar CHD reported in the DECIPHER database.
To facilitate the analysis of these rare events, we have developed an interactive web-based database called DECIPHER (Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources) which incorporates a suite of tools designed to aid the interpretation of submicroscopic chromosomal imbalance, inversions, and translocations.
DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) (https://decipher.sanger.ac.uk/ ).sanger.ac.uk/
Similar(32)
Searches of the CNV database DECIPHER identified 10 individuals with deletions or duplications involving the PTPN4 (Table 1).
12 of the detected 29 rare CNVs (41.3 %) were recurrently reported in DECIPHER or ISCA database as associated with either VSD or general heart disease.
Specifically, 312 OFC patients were collected from DECIPHER and ECARUCA databases with a total of 249 genomic deletions and 226 duplications.
Firstly, we collected unique OFC patients from DECIPHER and ECARUCA databases, to ensure a single registration of patients and to avoid overrepresentation due to repeated data.
Indeed, in DECIPHER and ECARUCA databases, many individuals with deleted or duplicated OFC candidate genes show other disease phenotypes but lack an OFC (non-OFC individuals) (Supplementary Table 6).
More suggestions(2)
Write better and faster with AI suggestions while staying true to your unique style.
Since I tried Ludwig back in 2017, I have been constantly using it in both editing and translation. Ever since, I suggest it to my translators at ProSciEditing.

Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com