Minimal Permutations and 2-Regular Skew Tableaux

Bouvel and Pergola introduced the notion of minimal permutations in the study of the whole genome duplication-random loss model for genome rearrangements. Let $\mathcal{F}_d(n)$ denote the set of minimal permutations of length $n$ with $d$ descents, and let $f_d(n)= |\mathcal{F}_d(n)|$. They derived that $f_{n-2}(n)=2^{n}-(n-1)n-2$ and $f_n(2n)=C_n$, where $C_n$ is the $n$-th Catalan number. Mansour and Yan proved that $f_{n+1}(2n+1)=2^{n-2}nC_{n+1}$. In this paper, we consider the problem of counting minimal permutations in $\mathcal{F}_d(n)$ with a prescribed set of ascents. We show that such structures are in one-to-one correspondence with a class of skew Young tableaux, which we call $2$-regular skew tableaux. Using the determinantal formula for the number of skew Young tableaux of a given shape, we find an explicit formula for $f_{n-3}(n)$. Furthermore, by using the Knuth equivalence, we give a combinatorial interpretation of a formula for a refinement of the number $f_{n+1}(2n+1)$.Comment: 19 page

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Sex differences in oncogenic mutational processes

Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research.Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research.Peer reviewe