Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

ABSTRACT: UK10K Avon Longitudinal Study of Parents and Children (ALSPAC) Variants

PROVIDER: PRJEB7217 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	ALSPAC.beagle.anno.csq.shapeit.20131101.sites.vcf.gz	Vcf
	ALSPAC.beagle.anno.csq.shapeit.20131101.sites.vcf.gz.tbi	Vcf

Items per page:

1 - 2 of 2

Similar Datasets

Targeted next-generation sequencing in children with intellectual disabilities, autism spectrum disorders and multiple congenital abnormalities

Project description:We performed a targeted NGS using the commercial gene panel design ClearSeq Inherited Disease (Agilent Technologies) to identify the pathogenic sequence variants in children with ID/DD, ASD and MCA and their unaffected parents

2019-08-31 | E-MTAB-8041 | biostudies-arrayexpress

Pediatric Reporting of Adult-Onset Genomic Results

Project description:The Investigators will conduct a longitudinal, mixed-methods cohort study to assess primary and secondary psychosocial outcomes among 705 MyCode pediatric participants and their parents, and health behaviors of parents whose children receive an adult- or pediatric-onset genomic result. Data will be gathered via quantitative surveys using validated measures of distress, family functioning, quality of life, body image, perceived cancer/heart disease risk, genetic counseling satisfaction, genomics knowledge, and adjustment to genetic information; qualitative interviews with adolescents and parents; and electronic health records review of parents’ cascade testing uptake and initiation of risk reduction behaviors. The investigators will also conduct empirical and theoretical legal research to examine the loss of chance doctrine and its applicability to genomic research.

| 2296574 | ecrin-mdr-crc

Proteomic analysis of protein profile of blood serum of patients with autism children

Project description:A comparative panoramic mass spectrometric analysis of serum samples from three families with children with autistic disorders was carried out. The total number of examined samples was nine, including four control samples from healthy parents, and five samples from autistic children.

2016-11-01 | PXD005193 | Pride

Transcription profiling of human children with mental retardation and immediate family members

Project description:The cause of mental retardation in one-third to one-half of all affected individuals is unknown. Microscopically-detectable chromosomal abnormalities are the most frequent recognized cause, but gain or loss of chromosomal segments that are too small to be seen by conventional cytogenetic analysis has been found to be another important cause. Array-based methods offer a practical means of performing a high-resolution survey of the entire genome for submicroscopic copy number variants. We studied 100 children with idiopathic mental retardation and their parents using the Affymetrix GeneChipÂ® Mapping 100K Assay and found de novo duplications as small as 1.1 Mb in three cases, de novo deletions as small as 178 kb in eight cases, and unsuspected mosaic trisomy 9 in another case. This technology can detect at least twice as many potentially pathogenic de novo copy number variants as conventional cytogenetic analysis in people with mental retardation. Experiment Overall Design: Using the Affymetrix GeneChipÂ® Mapping 100K Assay we studied 100 trios that each included one child with idiopathic mental retardation (MR) and both of his/her unaffected biological parents. We also tested 10 unaffected siblings of the MR children from 10 of the above families. In addition, we analyzed 7 trios (child and both unaffected biological parents) as positive controls with previously identified chromosomal aberrations. Experiment Overall Design: Within each sample ID the four digit number refers to a family. Following this four digit family number, 'c' indicates child with MR, 'm' means unaffected mother, 'f' means unaffected father and 's' means unaffected sibling.

2008-06-21 | E-GEOD-7226 | biostudies-arrayexpress

Targetted Microarray Testing for Intellectual Disability Provides Diagnoses and Identifies Novel Candidate Genes

Project description:We designed a microarray to test at exonic resolution for genomic imbalance for genes representative of all known chromosomal microdeletion/microduplication syndromes, all known causative genes for ID, all known genes encoding glutamate receptors and their known encoding proteins and all known genes encoding proteins with epigenetic regulatory function. We found 36 de novo copy number variants affecting 35 children in this study. 167 trios, each comprising an affected child and both its normal parents were analyzed by conducting two comparative hybridizations; child vs. mother and child vs. father, and only selecting a CNV if it appeared in both hybridizations, i.e., was de novo. De novo CNVs were independantly validated using quantitative PCR.

2012-07-23 | E-GEOD-39533 | biostudies-arrayexpress

Analysis of transgenerational effects on DNA copy number aberrations in male mice exposed to continuous 20mGy/day gamma-rays for 400 days (Secondary screening for 0GyI family)

Project description:Transgenerational effects of continuous low dose-rate (LDR) gamma-ray irradiation have not been well studied. C57BL/6JNrs male mice were maintained in non-irradiated room for 400 days from 8 weeks of age. This study investigated the De novo mutation by comparing the parents and children. This is secondary screening. This study was performed under contract with the Aomori Prefectural Government, Japan.

2017-01-27 | GSE94127 | GEO

Analysis of transgenerational effects on DNA copy number aberrations in male mice exposed to continuous 20mGy/day gamma-rays for 400 days (Secondary screening for 0GyK familly).

2017-01-31 | GSE94286 | GEO

Analysis of transgenerational effects on DNA copy number aberrations in male mice exposed to continuous 20mGy/day gamma-rays for 400 days (Secondary screening for 0GyJ familly).

2017-01-31 | GSE94285 | GEO

Analysis of transgenerational effects on DNA copy number aberrations in male mice exposed to continuous 20mGy/day gamma-rays for 400 days (Primary screening for 20mGyW familly).

Project description:Transgenerational effects of continuous low dose-rate (LDR) gamma-ray irradiation have not been well studied. C57BL/6JNrs male mice were maintained in non-irradiated room for 400 days from 8 weeks of age. This study investigated the De novo mutation by comparing the parents and children. This is primary screening. This study was performed under contract with the Aomori Prefectural Government, Japan.

2017-01-12 | GSE93396 | GEO

Analysis of transgenerational effects on DNA copy number aberrations in male mice exposed to continuous 20mGy/day gamma-rays for 400 days (Secondary screening for 20mGyH familly).

2017-02-25 | GSE95320 | GEO