The Tohoku Medical Megabank Organization reports the whole-genome sequences of 1,070 healthy Japanese individuals and construction of a Japanese population reference panel (1KJPN). Here we identify through this high-coverage sequencing (32.4 × on average), 21.2 million, including 12 million novel, single-nucleotide variants (SNVs) at an estimated false discovery rate of <1.0%. This detailed analysis detected signatures for purifying selection on regulatory elements as well as coding regions. We also catalogue structural variants, including 3.4 million insertions and deletions, and 25,923 genic copy-number variants. The 1KJPN was effective for imputing genotypes of the Japanese population genome wide. These data demonstrate the value of high-coverage sequencing for constructing population-specific variant panels, which covers 99.0% SNVs of minor allele frequency ≥0.1%, and its value for identifying causal rare variants of complex human disease phenotypes in genetic association studies.

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Contents § 1. Introduction and summary 1.1. Viewpoint of cluster correlations in non-alpha-nuclei 1.2. Interactions between few-nucleon clusters 1.3. Motion of individual nucleons in molecule-like nuclei 1.4. Multi-cluster model for non-alpha-nuclei 1.5. Alpha and three-nucleon cluster states in lightest sd-shell and A=15 nuclei § 2. Interactions between few-nucleon clusters 2.1. Realistic effective nuclear potentials 2.2. N-a interaction 2.3. d-a interaction and distortion effect of deuteron 2.4. Excited states in A=4 system with 3N+N cluster model § 3. Molecular structure in the 8 Be-core region 3.1. Motion of a nucleon around a 8 Be·core 3.2. Molecular orbital model . Structure of 9 Be nucleus 3.4. Structure of 10 B nucleus 3.5. Structure of neutron-rich Be-and B-isotopes § 4. Three-cluster model of the A=lO and 11 nuclei 4.1. Orthogonality condition model § 5. 4.2. 2a + t cluster model of 11 B nucleus 4.3. 2a+d cluster model of 10 B and 10 Be nuclei 4.4. Effect of the complete antisymmetrization Alpha and three-nucleon cluster states in lightest nuclei 5.1. Structure of A=19 nuclei 5.2. Structure of A=l8 nuclei 5.3. Structure of A=l7 nuclei 5.4. Structure of A=l5 nuclei § 1. Introduction and summary sd-shell 1.1. Viewpoint of cluster correlations in non-alpha-nuclei and A=151.1.1. The light nuclei (we consider in this chapter the P-shell and lightest sd-shell nuclei) have a relatively small number of nucleons, and their characters vary remarkably from nucleus to nucleus, showing strong individuality. Even in these light nuclei we see the persistency of saturation property which is considered a fundamental property of overall nuclei. In light nuclei, the saturation property emerges through formation of the acluster as a saturating subunit. This is the fundamental aspect prescribing the characteristics of light nuclei. The basic viewpoint of a-cluster structure in light nuclei has been presented in Ref. 1). As stated in detail in the previous chapter, 2 l recent investigations on light a-nuclei 3 l~el exhibit a remarkable success of the a-cluster model, which provides us with a comprehensive understanding of nuclear structure including quite high excited states, where coexistence of the shell and cluster structures and structure change between them can be understood in a unified way. Now we naturally proceed to an extensive investigation of non-a-nuclei from the cluster-model viewpoint. 1.1.2.The structure of light nuclei has been explained mostly in terms of the intermediate-coupling shell model or the deformed shell model, like the Nilsson model and the deformed Hartree-Fock method. They assume the formation of a static one-center single-particle field. The 9 Be nucleus, on the other hand, has long been considered a prototype of the molecule-like structure of nuclei, in which two a-particles constitute a stable dumbbell-like core and a remaining (valence) neutron moves on a single-particle orbital at NERL on May 26, 2015 http://ptps.oxfordjournals.org/ Downloaded from tion, which is an "elementary interaction...