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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
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-10037 | biostudies-arrayexpress
GenomicSporadic 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 | dbGaP
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