123 research outputs found

    Sir C. Wyville Thomson\u27s letters to staff-commander Thomas H. Tizard, 1877-1881

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    These original letters from Thomson to Tizard are concerned with the publication of the results of the CHALLENGER Expedition, as well as the study of the Faroe Channel and the eventual delineation of the Wyville Thomson Ridge with its diversity of cold and warm area bottom fauna. They also provide evidence of Thomson\u27s indefatigability as well as certain historical sidelights

    A posse ad esse

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    From possibility to reality seems an appropriate phrase to describe the development of oceanography in the pa.st three-quarters of a century. It is of little more than academic interest to pick a particular date or event as marking the birth of a field of endeavor; however, for oceanography, the late 1860\u27s and the early 1870\u27s unquestionably mark the period which gave the greatest impetus to research on the chemistry, physics a.nd biology of the sea...

    An appreciation and Statement of policy

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    With this issue, Volume XXXII, number 1, of the Journal of Marine Research, we have a new Editor, George Veronis, Professor of Geophysics and Applied Science…

    Volume 9. Article 2. Studies on the marine resources of southern New England. I. An analysis of the fish population of the shore zone.

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    https://elischolar.library.yale.edu/bulletin_yale_bingham_oceanographic_collection/1132/thumbnail.jp

    Volume 9. Article 4. Studies on the marine resources of southern New England. IV. The biology and economic importance of the ocean pout, Macrozoarces americanus (Bloch and Schneider).

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    https://elischolar.library.yale.edu/bulletin_yale_bingham_oceanographic_collection/1134/thumbnail.jp

    Volume 13. Article 3. Hydrographic and biological studies of Block Island Sound.

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    https://elischolar.library.yale.edu/bulletin_yale_bingham_oceanographic_collection/1150/thumbnail.jp

    Volume 18. Article 3. Studies on two skates: Raja erinacea Mitchill, Raja eglanteria Bosc.

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    https://elischolar.library.yale.edu/bulletin_yale_bingham_oceanographic_collection/1164/thumbnail.jp

    Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing

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    <p>Abstract</p> <p>Background</p> <p>The emergence of next-generation sequencing technology presents tremendous opportunities to accelerate the discovery of rare variants or mutations that underlie human genetic disorders. Although the complete sequencing of the affected individuals' genomes would be the most powerful approach to finding such variants, the cost of such efforts make it impractical for routine use in disease gene research. In cases where candidate genes or loci can be defined by linkage, association, or phenotypic studies, the practical sequencing target can be made much smaller than the whole genome, and it becomes critical to have capture methods that can be used to purify the desired portion of the genome for shotgun short-read sequencing without biasing allelic representation or coverage. One major approach is array-based capture which relies on the ability to create a custom in-situ synthesized oligonucleotide microarray for use as a collection of hybridization capture probes. This approach is being used by our group and others routinely and we are continuing to improve its performance.</p> <p>Results</p> <p>Here, we provide a complete protocol optimized for large aggregate sequence intervals and demonstrate its utility with the capture of all predicted amino acid coding sequence from 3,038 human genes using 241,700 60-mer oligonucleotides. Further, we demonstrate two techniques by which the efficiency of the capture can be increased: by introducing a step to block cross hybridization mediated by common adapter sequences used in sequencing library construction, and by repeating the hybridization capture step. These improvements can boost the targeting efficiency to the point where over 85% of the mapped sequence reads fall within 100 bases of the targeted regions.</p> <p>Conclusions</p> <p>The complete protocol introduced in this paper enables researchers to perform practical capture experiments, and includes two novel methods for increasing the targeting efficiency. Coupled with the new massively parallel sequencing technologies, this provides a powerful approach to identifying disease-causing genetic variants that can be localized within the genome by traditional methods.</p

    Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome

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    The short-rib polydactyly (SRP) syndromes are a heterogenous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abnormalities. Homozygosity by descent mapping in a consanguineous SRP family identified a genomic region that contained DYNC2H1, a cytoplasmic dynein involved in retrograde transport in the cilium. Affected individuals in the family were homozygous for an exon 12 missense mutation that predicted the amino acid substitution R587C. Compound heterozygosity for one missense and one null mutation was identified in two additional nonconsanguineous SRP families. Cultured chondrocytes from affected individuals showed morphologically abnormal, shortened cilia. In addition, the chondrocytes showed abnormal cytoskeletal microtubule architecture, implicating an altered microtubule network as part of the disease process. These findings establish SRP as a cilia disorder and demonstrate that DYNC2H1 is essential for skeletogenesis and growth
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