Missing heritability of complex diseases: case solved?
E Génin - Human genetics, 2020 - Springer
About 10 years ago, after the first large-scale genome-wide association studies (GWAS)
were conducted to find genes associated with common complex diseases, investigators …
were conducted to find genes associated with common complex diseases, investigators …
Single nucleotide polymorphism arrays: a decade of biological, computational and technological advances
T LaFramboise - Nucleic acids research, 2009 - academic.oup.com
Array manufacturers originally designed single nucleotide polymorphism (SNP) arrays to
genotype human DNA at thousands of SNPs across the genome simultaneously. In the …
genotype human DNA at thousands of SNPs across the genome simultaneously. In the …
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of
absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized …
absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized …
Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study
Whole-genome sequencing (WGS) brings comprehensive insights to cancer genome
interpretation. To explore the clinical value of WGS, we sequenced 254 triple-negative …
interpretation. To explore the clinical value of WGS, we sequenced 254 triple-negative …
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
Rare copy-number variation (CNV) is an important source of risk for autism spectrum
disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of …
disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of …
[HTML][HTML] Integrating common and rare genetic variation in diverse human populations
International HapMap 3 Consortium - Nature, 2010 - ncbi.nlm.nih.gov
Despite great progress in identifying genetic variants that influence human disease, most
inherited risk remains unexplained. A more complete understanding requires genome-wide …
inherited risk remains unexplained. A more complete understanding requires genome-wide …
Multiple recurrent de novo CNVs, including duplications of the 7q11. 23 Williams syndrome region, are strongly associated with autism
We have undertaken a genome-wide analysis of rare copy-number variation (CNV) in 1124
autism spectrum disorder (ASD) families, each comprised of a single proband, unaffected …
autism spectrum disorder (ASD) families, each comprised of a single proband, unaffected …
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
To assess factors influencing the success of whole-genome sequencing for mainstream
clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families …
clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families …
Functional impact of global rare copy number variation in autism spectrum disorders
The autism spectrum disorders (ASDs) are a group of conditions characterized by
impairments in reciprocal social interaction and communication, and the presence of …
impairments in reciprocal social interaction and communication, and the presence of …
Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci
Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC)(N=
2,591 families) replicates prior findings of strong association with autism spectrum disorders …
2,591 families) replicates prior findings of strong association with autism spectrum disorders …