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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
TranscriptomicsFunctional genomics identifies type I interferon pathway as central for host defense against Candida albicans
Candida albicans is the most common human fungal pathogen causing mucosal and systemic infections. However, human antifungal immunity remains poorly defined. By integrating transcriptional analysis and functional genomics we identified Candida-specific host defense mechanisms in humans. Candida indu...
ORGANISM(S): Homo sapiens 
2012-12-01 | E-GEOD-42630 | biostudies-arrayexpress
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
GenomicsSC_DDD-G-5
Post-QC (pre-imputation) genotype data for N=2,166, a subset of trios described in EGAD00010001602. These data form N=722 complete trios in which the proband has a neurodevelopmental phenotype (Niemi et al. Nature 2018). Includes HPO phenotype terms for patients. Samples were genotyped on the Illumi...
EGAD00010001606 | 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
Genomicsuk10k_rare_neuromuscular_rel_2012_11_27-sc-20121218 - samples
UK10K_RARE_NEUROMUSCULAR REL-2012-11-27
EGAD00001000298 | EGA
Genomicsuk10k_rare_neuromuscular_rel_2012_01_13-sc-20120611 - samples
UK10K_RARE_NEUROMUSCULAR REL-2012-01-13
EGAD00001000180 | EGA
Genomicsuk10k_rare_nmwg-rel-2013-03-06-sc-20140327 - samples
UK10K_RARE_NMWG REL-2013-03-06
EGAD00001000804 | EGA
Genomicsuk10k_rare_neuromuscular_rel_2013_04_20-sc-20130522 - samples
UK10K_RARE_NEUROMUSCULAR REL-2013-04-20
EGAD00001000418 | EGA
Genomicsuk10k_rare_neuromuscular_rel_2012_02_22-sc-20120613 - samples
UK10K_RARE_NEUROMUSCULAR REL-2012-02-22
EGAD00001000189 | EGA
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