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TranscriptomicsFine-Scale Mapping and Sequencing of Structural Variation from Eight Human Genomes
Genetic variation amongst individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single-nucleotide changes. In this manuscript we explore variation on an intermediate scale-particularly insertions, deletions, and inversions affecting from a few t...
ORGANISM(S): Homo sapiens 
2008-05-01 | E-GEOD-10008 | biostudies-arrayexpress
GenomicsGenetic Analysis of Limb Malformation Disorders: Freeman Sheldon Syndrome Exome Sequencing Study (LMD-FSS)

The overall goal of this project is to investigate the etiology and pathogenesis of malformations (i.e., birth defects) of the limb, concentrating on abnormalities of limb patterning such as limb deficiency/duplications and multiple congenital contractures.

The exome sequences of four ...

phs000204.v1.p1 | EGA
GenomicsNon-invasive whole genome sequencing of a human fetus

The overall purpose of this study was to demonstrate the feasibility of producing haplotype-phased whole genome sequence data from a fetus using free fetal DNA isolated from maternal plasma collected during the first half of gestation.

phs000500.v1.p1 | EGA
GenomicsSporadic autism exomes reveal a highly interconnected protein network of de novo mutations

It is well established that autism spectrum disorders (ASD) have a strong genetic component; however, for at least 70% of cases, the underlying genetic cause is unknown. Under the hypothesis that de novo mutations underlie a substantial fraction of the risk for developing ASD in families with no ...

phs000482.v1.p1 | EGA
TranscriptomicsINTRA_specific hybs: A Burst of Segmental Duplications in the African Great Ape Ancestor
Wilson and King were among the first to recognize that the extent of phenotypic change between humans and great apes was dissonant with the rate of molecular change. Proteins are virtually identical; cytogenetically there are few rearrangements that distinguish ape-human chromosomes; rates of single...
ORGANISM(S): Pan troglodytes 
2010-05-22 | E-GEOD-13885 | biostudies-arrayexpress
GenomicsData Access Committee for Deciphering Developmental Disorders (DDD) Project
Data Access Committee EGAC00001000282
EGAC00001000282 | EGA
GenomicsSC_DDD-G-3
Unfiltered genotype data for DDD Study trios (patient and parents) (N=2,166 samples), some of which were used for replication of neurodevelopmental disorder polygenic risk (Niemi et al., Nature 2018). Samples were genotyped on the Illumina HumanOmniExpress BeadChip
EGAD00010001602 | EGA
Genomicsena-DATASET-SC-30-04-2015-15:06:30:503-5 - samples
DDD DATAFREEZE 2013-12-18: 1133 trios - VCF files (Ref: DDD Nature 2015)
EGAD00001001355 | EGA
GenomicsGSA pilot raw data
Unfiltered genotype data for a pilot study (Batch 1) of 1,140 DDD Study participants (and 12 "Empty" samples). Samples include 380 mothers, 382 fathers and 378 probands, and form 376 trios. Most of the probands have been previously genoyped on the llumina HumanCoreExome BeadChip (EGAD00010...
EGAD00010002567 | EGA
GenomicsEGAS00001000775-sc-20161028 - samples
DDD DATAFREEZE 2014-11-04: 4293 trios - exome sequence CRAM files
EGAD00001002748 | EGA
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