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GenomicWhole Genome Study for De Novo Mutation Rates

Germline mutations are the source of evolution and contribute substantially to many health-related processes. In this study, we use whole genome deep sequencing data from parents-offspring trios to examine the de novo point mutations (DNMs) in the offspring.

We studied correlation between ...

phs001055 | dbGaP
GenomicsGenome-wide profiling of p63 binding sites identifies genes and regulatory elements for p63-related disorders
We identified p63 target genes and binding sites responsible for ectodermal defects by genome-wide profiling of p63 binding using ChIP-seq and expression analysis in human primary keratinocytes from patients with p63 mutations. As proof of principle, we identified a novel de novo microdeletion causi...
ORGANISM(S): Homo sapiens 
2010-08-15 | E-GEOD-17611 | biostudies-arrayexpress
UnknownDe novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Not available
S-EPMC3677859 | biostudies-literature
Genomicsena-DATASET-RADBOUDUMC-01-06-2015-11:22:06:411-305 - samples
Exome sequencing in 3 Möbius patients
EGAD00001001385 | EGA
GenomicsExome Sequencing in Moebius Syndrome
Möbius syndrome (MBS; MIM 157900) is a neurological disorder that is characterized by paralysis of the facial nerves and variable other congenital anomalies. The etiology of this syndrome has been an enigma since the initial description in 1880 by von Graaefe and in 1888 by Möbius, and it has been d...
EGAS00001001250 | EGA
GenomicsExome sequencing in Möbius syndrome
Data Access Committee EGAC00001000322
EGAC00001000322 | EGA
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