Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells

Recent advances in whole-genome sequencing have brought the vision of personal genomics and genomic medicine closer to reality. However, current methods lack clinical accuracy and the ability to describe the context (haplotypes) in which genome variants co-occur in a cost-effective manner. Here we describe a low-cost DNA sequencing and haplotyping process, long fragment read (LFR) technology, which is similar to sequencing long single DNA molecules without cloning or separation of metaphase chromosomes. In this study, ten LFR libraries were made using only ～100?picograms of human DNA per sample. Up to 97% of the heterozygous single nucleotide variants were assembled into long haplotype contigs. Removal of false positive single nucleotide variants not phased by multiple LFR haplotypes resulted in a final genome error rate of 1 in 10?megabases. Cost-effective and accurate genome sequencing and haplotyping from 10-20 human cells, as demonstrated here, will enable comprehensive genetic studies and diverse clinical applications.     

Development of the auditory tympana in the cricketTeleogryllus commodus (Walker): Experiments on regeneration and transplantation

Summary Grafting and regeneration experiments on prothoracic legs of the cricketTeleogryllus commodus (Walker) demonstrate: a) that the legs retain their identity, as indicated by formation of tympanal cuticle in the adult, when transplanted to the site of a mesothoracic leg in immature animals, and b) that the presence of tympanal cuticle on a regenerate leg depends on the instar of amputation.I thank Mike Bate for the helpful discussion throughout the project and Carmen Vilcins for excellent technical assistance.     

The absolute configuration of SU 23397: A novel neuroleptic agent

Summary The absolute configuration of a novel chiral neuroleptic agent SU 23397 (I) was determined by ORD comparison of (+)-5-methoxy dihydro coumarilic acid (VIII), a synthetic precursor of SU 23397 (I), with (+)-dihydro coumarilic acid, whose absolute configuration is known⁹. This assignment was confirmed by oxidative degradation of (+)-5-methoxy dihydro coumarilic acidVIII tod-(+)-malic acid.Acknowledgments. We wish to acknowledge and thank Dr J. Karliner, Ciba-Geigy Corporation, Ardsley, New York, for the ORD curves. We thank Dr Max Wilhelm for support and encouragement.