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- 1From: Nature Genetics. (Vol. 44, Issue 6) Peer-ReviewedWe detected clonal mosaicism for large chromosomal anomalies (duplications, deletions and uniparental disomy) using SNP microarray data from over 50,000 subjects recruited for genome-wide association studies. This...
- 2From: Nature Genetics. (Vol. 44, Issue 6) Peer-ReviewedFacioscapulohumeral muscular dystrophy (FSHD) is associated with contraction of D4Z4 repeats on chromosome 4, loss of repressive polycomb-mediated chromatin modifications and derepression of nearby genes. Now, Davide...
- 3From: Nature Genetics. (Vol. 44, Issue 6) Peer-ReviewedRNA exosomes are multi-subunit complexes conserved throughout evolution (1) and are emerging as the major cellular machinery for processing, surveillance and turnover of a diverse spectrum of coding and noncoding RNA...
- 4From: Nature Genetics. (Vol. 44, Issue 6) Peer-ReviewedProstate cancer is the second most common cancer in men worldwide and causes over 250,000 deaths each year (1). Overtreatment of indolent disease also results in significant morbidity (2). Common genetic alterations in...
- 5From: Nature Genetics. (Vol. 44, Issue 6) Peer-ReviewedPiwi-associated small RNAs (piRNAs) function in the germline to silence transposons by transcriptional and post-transcriptional mechanisms. Now, Eric Kandel, Thomas Tuschl and colleagues show that piRNAs are expressed...
- 6From: Nature Genetics. (Vol. 44, Issue 6) Peer-ReviewedOpisthorchis viverrini-related cholangiocarcinoma (CCA), a fatal bile duct cancer, is a major public health concern in areas endemic for this parasite. We report here whole-exome sequencing of eight O. viverrini-related...
- 7From: Nature Genetics. (Vol. 44, Issue 6) Peer-ReviewedSean Myles and colleagues report on the genetic basis of blond hair in Solomon Islanders, a population that shows both the darkest skin pigmentation outside of Africa and the highest prevalence of blond hair (Science...
- 8From: Nature Genetics. (Vol. 44, Issue 6) Peer-ReviewedCilia are essential for fertilization, respiratory clearance, cerebrospinal fluid circulation and establishing laterality (1). Cilia motility defects cause primary ciliary dyskinesia (PCD, MIM244400), a disorder...
- 9From: Nature Genetics. (Vol. 44, Issue 6) Peer-ReviewedBrandon Gaut Nat. Genet. 44, 115-116 (2012); published online 27 January 2012; corrected after print 27 April 2012 In the version of this article initially published, there was a mistake in reference 15. This...
- 10From: Nature Genetics. (Vol. 44, Issue 6) Peer-Reviewed
Extremely low-coverage sequencing and imputation increases power for genome-wide association studies
Genome-wide association studies (GWAS) have proven to be a powerful method to identify common genetic variants contributing to susceptibility to common diseases. Here, we show that extremely low-coverage sequencing... - 11From: Nature Genetics. (Vol. 44, Issue 6) Peer-ReviewedThe chromosome 17q21.31 deletion syndrome is a genomic disorder characterized by highly distinctive facial features, moderate-to-severe intellectual disability, hypotonia and friendly behavior. Here, we show that de...
- 12From: Nature Genetics. (Vol. 44, Issue 6) Peer-ReviewedWe show that haploinsufficiency of KANSL1 is sufficient to cause the 17q21.31 microdeletion syndrome, a multisystem disorder characterized by intellectual disability, hypotonia and distinctive facial features. The...
- 13From: Nature Genetics. (Vol. 44, Issue 6) Peer-ReviewedA new study shows that three independent mutations in the Shi gene, which encodes a YABBY transcription factor, gave rise to the non-shattering seed phenotype in domesticated sorghum. This same gene may have also had a...
- 14From: Nature Genetics. (Vol. 44, Issue 6) Peer-ReviewedAlthough over 60 genes are known to cause hearing loss, very little is known about the genetics of touch. A few genes that cause complete insensitivity to pain have been identified, but whether or how much touch...
- 15From: Nature Genetics. (Vol. 44, Issue 6) Peer-ReviewedExome sequencing-based studies are emerging as a popular approach to test for association of rare coding variants with complex phenotypes. The promise of exome sequencing is grounded in theoretical population genetics...
- 16From: Nature Genetics. (Vol. 44, Issue 6) Peer-ReviewedIn an analysis of 31,717 cancer cases and 26,136 cancer-free controls from 13 genome-wide association studies, we observed large chromosomal abnormalities in a subset of clones in DNA obtained from blood or buccal...
- 17From: Nature Genetics. (Vol. 44, Issue 6) Peer-ReviewedMiltos Tsiantis Nat. Genet. 43, 1048-1050 (2011); published online 27 October 2011; corrected after print 27 April 2012 In the version of this article initially published, a study by Studer et al. was incorrectly...
- 18From: Nature Genetics. (Vol. 44, Issue 6) Peer-ReviewedCharacterizing genetic diversity within and between populations has broad applications in studies of human disease and evolution. We propose a new approach, spatial ancestry analysis, for the modeling of genotypes in...
- 19From: Nature Genetics. (Vol. 44, Issue 6) Peer-ReviewedUsing homozygosity mapping and locus resequencing, we found that alterations in the homeodomain of the IRX5 transcription factor cause a recessive congenital disorder affecting face, brain, blood, heart, bone and gonad...
- 20From: Nature Genetics. (Vol. 44, Issue 6) Peer-ReviewedWilms tumor is the most common renal malignancy of childhood. To identify common variants that confer susceptibility to Wilms tumor, we conducted a genome-wide association study in 757 individuals with Wilms tumor...