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- 1From: Nature Genetics. (Vol. 39, Issue 7) Peer-ReviewedGenome-wide association studies are set to become the method of choice for uncovering the genetic basis of human diseases. A central challenge in this area is the development of powerful multipoint methods that can...
- 2From: Nature Genetics. (Vol. 39, Issue 7) Peer-ReviewedHere we describe a practical Cre-IoxP and piggyeac transposon-based mutagenesis strategy to systematically mutate coding sequences and/or the vast noncoding regions of the mouse genome for large-scale functional genomic...
- 3From: Nature Genetics. (Vol. 39, Issue 7) Peer-ReviewedChronic lymphocytic leukemia (CLL) has high heritability relative to other cancers, suggesting that genetic predisposition can be important. Now, Albert de la Chapelle, Christoph Plass and colleagues have identified a...
- 4From: Nature Genetics. (Vol. 39, Issue 7) Peer-ReviewedGenome-wide association studies, exemplified by the Wellcome Trust Case Control Consortium and follow-up studies, have identified dozens of common variants robustly associated with common diseases, providing new clues...
- 5From: Nature Genetics. (Vol. 39, Issue 7) Peer-ReviewedThe much-anticipated publication of the ENCODE pilot project, representing a detailed and comprehensive characterization of 1% of the human genome, has demonstrated how little we truly understand about how our genes are...
- 6From: Nature Genetics. (Vol. 39, Issue 7) Peer-ReviewedCerebello-oculo-renal syndrome (CORS), also called Joubert syndrome type B, and Meckel (MKS) syndrome belong to the group of developmental autosomal recessive disorders that are associated with primary cilium...
- 7From: Nature Genetics. (Vol. 39, Issue 7) Peer-ReviewedWnt signaling regulates several aspects of development and tissue homeostasis. Two new studies in this issue uncover the underlying mechanism for focal dermal hypoplasia, a multiorgan developmental disorder, and...
- 8From: Nature Genetics. (Vol. 39, Issue 7) Peer-ReviewedLeber congenital amaurosis (LCA) causes blindness or severe visual impairment at or within a few months of birth. Here we show, using homozygosity mapping, that the LCA5 gene on chromosome 6q14, which encodes the...
- 9From: Nature Genetics. (Vol. 39, Issue 7) Peer-ReviewedFocal dermal hypoplasia (FDH) is an X-linked dominant multisystem birth defect affecting tissues of ectodermal and mesodermal origin. Using a stepwise approach of (i) genetic mapping of FDH, (ii) high-resolution...
- 10From: Nature Genetics. (Vol. 39, Issue 7) Peer-Reviewed"Look, it's a great idea, but if you're going to do this, you should make it the best possible journal it can be, even competing with Nature if necessary."--Eric Lander (October 1991) Entering Nature's London...
- 11From: Nature Genetics. (Vol. 39, Issue 7) Peer-ReviewedAutophagy functions as a survival pathway, providing an alternative energy source to maintain normal metabolism in cells under metabolic stress. Cells in which autophagic functions are defective can give rise to tumors,...
- 12From: Nature Genetics. (Vol. 39, Issue 7) Peer-ReviewedIn order to identify genes subject to selection, a number of recent studies have searched for loci showing positive selection in the human genome. Now, Scott Williamson and colleagues present new analyses to detect...
- 13From: Nature Genetics. (Vol. 39, Issue 7) Peer-ReviewedIt is commonly thought that deep phylogenetic conservation of plant microRNAs (miRNAs) and their targets (1,2) indicates conserved regulatory functions. We show that the blind (bl) mutant of Petunia hybrida (3) and the...
- 14From: Nature Genetics. (Vol. 39, Issue 7) Peer-ReviewedProtein-protein interaction analyses have uncovered a ciliary and basal body protein network that, when disrupted, can result in nephronophthisis (NPHP), Leber congenital amaurosis, Senior-Loken syndrome (SLSN) or...
- 15From: Nature Genetics. (Vol. 39, Issue 7) Peer-ReviewedThe National Human Genome Research Institute recently announced the launch of a trans-NIH study, called ClinSeq, which aims to explore the use of individualized gene sequencing in a clinical setting. Led by Les...
- 16From: Nature Genetics. (Vol. 39, Issue 7) Peer-ReviewedA genome-wide association scan in individuals with Crohn's disease by the Wellcome Trust Case Control Consortium detected strong association at four novel loci. We tested 37 SNPs from these and other loci for association...
- 17From: Nature Genetics. (Vol. 39, Issue 7) Peer-ReviewedGenetically engineered mice provide powerful tools for understanding mammalian gene function. These models traditionally rely on gene overexpression from transgenes or targeted, irreversible gene mutation. By adapting...
- 18From: Nature Genetics. (Vol. 39, Issue 7) Peer-ReviewedA growing body of evidence suggests that DNA damage response genes are important for normal development and for maintaining tissue homeostasis in adulthood. Consistent with these findings, Eric Brown and colleagues (Cell...
- 19From: Nature Genetics. (Vol. 39, Issue 7) Peer-ReviewedIn RNA interference (RNAi), double-stranded RNA (dsRNA) is processed into short interfering RNA (siRNA) to mediate sequence-specific gene knockdown. The genetics of plant RNAi is not understood, nor are the bases for its...
- 20From: Nature Genetics. (Vol. 39, Issue 7) Peer-ReviewedWe tested 310,605 SNPs for association in 778 individuals with celiac disease and 1,422 controls. Outside the HLA region, the most significant finding (rs13119723; P = 2.0 x [10.sup.-7] was in the KIAA1109-TENR-1L2-1L21...