Chromosome 6 is a metacentric chromosome that constitutes about 6% of the human genome. The finished sequence comprises 166,880,988 base pairs, representing the largest chromosome sequenced so far. The entire sequence has been subjected to high-quality manual annotation, resulting in the evidence-supported identification of 1,557 genes and 633 pseudogenes. Here we report that at least 96% of the protein-coding genes have been identified, as assessed by multi-species comparative sequence analysis, and provide evidence for the presence of further, otherwise unsupported exons/genes. Among these are genes directly implicated in cancer, schizophrenia, autoimmunity and many other diseases. Chromosome 6 harbours the largest transfer RNA gene cluster in the genome; we show that this cluster co-localizes with a region of high transcriptional activity. Within the essential immune loci of the major histocompatibility complex, we find HLA-B to be the most polymorphic gene on chromosome 6 and in the human genome.
A comprehensive, domain-wide comparative analysis of genomic imprinting between mammals that imprint and those that do not can provide valuable information about how and why imprinting evolved. The imprinting status, DNA methylation, and genomic landscape of the Dlk1-Dio3 cluster were determined in eutherian, metatherian, and prototherian mammals including tammar wallaby and platypus. Imprinting across the whole domain evolved after the divergence of eutherian from marsupial mammals and in eutherians is under strong purifying selection. The marsupial locus at 1.6 megabases, is double that of eutherians due to the accumulation of LINE repeats. Comparative sequence analysis of the domain in seven vertebrates determined evolutionary conserved regions common to particular sub-groups and to all vertebrates. The emergence of Dlk1-Dio3 imprinting in eutherians has occurred on the maternally inherited chromosome and is associated with region-specific resistance to expansion by repetitive elements and the local introduction of noncoding transcripts including microRNAs and C/D small nucleolar RNAs. A recent mammal-specific retrotransposition event led to the formation of a completely new gene only in the eutherian domain, which may have driven imprinting at the cluster.
Objective. To examine the predictors of unit and item nonresponse, the magnitude of nonresponse bias, and the need for nonresponse weights in the Consumer Assessment of Health Care Providers and Systems (CAHPS s ) Hospital Survey. Methods. A common set of 11 administrative variables (41 degrees of freedom) was used to predict unit nonresponse and the rate of item nonresponse in multivariate models. Descriptive statistics were used to examine the impact of nonresponse on CAHPS Hospital Survey ratings and reports. Results. Unit nonresponse was highest for younger patients and patients other than non-Hispanic whites ( po.001); item nonresponse increased steadily with age ( po.001). Fourteen of 20 reports of ratings of care had significant ( po.05) but small negative correlations with nonresponse weights (median À 0.06; maximum À 0.09). Nonresponse weights do not improve overall precision below sample sizes of 300-1,000, and are unlikely to improve the precision of hospital comparisons. In some contexts, casemix adjustment eliminates most observed nonresponse bias. Conclusions. Nonresponse weights should not be used for between-hospital comparisons of the CAHPS Hospital Survey, but may make small contributions to overall estimates or demographic comparisons, especially in the absence of case-mix adjustment.
Survey research on older adults, especially regarding racial/ethnic disparities in health care, could benefit from improved response rates. These results suggest that targeted prenotification materials and campaigns, tailored follow-up, targeted Spanish mailings, Chinese translations/calls, and adjustments to telephone protocols may improve representation and response.
The importance of patient experience dimensions differs substantially and varies by HT. Quality improvement efforts should target those aspects of patient experience that matter most for each HT.
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