Genomics

Dataset Information

0

Down syndrome SNPs - samples

ABSTRACT: Down syndrome SNP genotyping data

PROVIDER: EGAD00010000464 | EGA |

REPOSITORIES: EGA

Json Xml
altmetric image

Publications

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

Sailani M Reza MR   Makrythanasis Periklis P   Valsesia Armand A   Santoni Federico A FA   Deutsch Samuel S   Popadin Konstantin K   Borel Christelle C   Migliavacca Eugenia E   Sharp Andrew J AJ   Duriaux Sail Genevieve G   Falconnet Emilie E   Rabionet Kelly K   Serra-Juhé Clara C   Vicari Stefano S   Laux Daniela D   Grattau Yann Y   Dembour Guy G   Megarbane Andre A   Touraine Renaud R   Stora Samantha S   Kitsiou Sofia S   Fryssira Helena H   Chatzisevastou-Loukidou Chariklia C   Kanavakis Emmanouel E   Merla Giuseppe G   Bonnet Damien D   Pérez-Jurado Luis A LA   Estivill Xavier X   Delabar Jean M JM   Antonarakis Stylianos E SE  

Genome research 20130619 9

Congenital heart defect (CHD) occurs in 40% of Down syndrome (DS) cases. While carrying three copies of chromosome 21 increases the risk for CHD, trisomy 21 itself is not sufficient to cause CHD. Thus, additional genetic variation and/or environmental factors could contribute to the CHD risk. Here we report genomic variations that in concert with trisomy 21, determine the risk for CHD in DS. This case-control GWAS includes 187 DS with CHD (AVSD = 69, ASD = 53, VSD = 65) as cases, and 151 DS with  ...[more]

Similar Datasets

Genomics Down syndrome CNVs - samples
| EGAD00010000466 | EGA
Genomics Down Syndrome
| PRJNA804910 | ENA
Genomics SNP data from Down syndrome and non-Down syndrome pediatric acute lymphoblastic leukemia cases and controls
2011-07-12 | GSE21091 | GEO
Transcriptomics Affymetrix SNP 6.0 data for individuals with Trisomy 21 or Down syndrome
2014-10-24 | E-GEOD-60607 | biostudies-arrayexpress
Transcriptomics SNP data from Down syndrome and non-Down syndrome pediatric acute lymphoblastic leukemia cases and controls
2011-07-12 | E-GEOD-21091 | biostudies-arrayexpress
Genomics Single cell genotyping of Myeloid Leukaemia of Down Syndrome cells
| PRJEB32618 | ENA
Transcriptomics DNA methylation profiles of brain samples from Down Syndrome subjects and controls.
2015-03-02 | E-GEOD-63347 | biostudies-arrayexpress
Transcriptomics Crnic Institute Human Trisome Project - JAK inhibition in Down syndrome: PolyA RNAseq from whole blood
2024-01-23 | GSE251967 | GEO
Genomics Epigenetic changes in Down syndrome leukemogenesis
| PRJNA197487 | ENA
Genomics INCLUDE Data Hub: NDA GUIDs for Down syndrome Research
| PRJNA1124174 | ENA