A familial, telomere-to-telomere reference for human mutation and recombination from a four-generation pedigree.

Using five complementary short- and long-read sequencing technologies, we phased and assembled >95% of each diploid human genome in a four-generation, 28-member family (CEPH 1463) allowing us to systematically assess mutations (DNMs) and recombination. From this family, we estimate an average of 192 DNMs per generation, including 75.5 single-nucleotide variants (SNVs), 7.

Effects of parental age and polymer composition on short tandem repeat mutation rates.

Short tandem repeats (STRs) are hotspots of genomic variability in the human germline because of their high mutation rates, which have long been attributed largely to polymerase slippage during DNA replication. This model suggests that STR mutation rates should scale linearly with a father's age, as progenitor cells continually divide after puberty. In contrast, it suggests that STR mutation rates should not scale with a mother's age at her child's conception, since oocytes spend a mother's reproductive years arrested in meiosis II and undergo a fixed number of cell divisions that are independent of the age at ovulation.

Preparing for Death While Investing in Life: A Narrative Inquiry and Case Report of Home-Based Paediatric Palliative, End-of-Life, and After-Death Care.

Paediatric palliative care is pivotal for addressing the complex needs of children with incurable diseases and their families. While home-based care offers a familiar and supportive environment, delivering comprehensive services in this context is challenging. The existing literature on home-based palliative care lacks detailed guidance for its organization and implementation.

Fifteen years of shared care for paediatric oncology, haematology and palliative patients across Queensland: The role of Regional Case Managers.

Objective: A shared care model was implemented in 2006 in Queensland to facilitate paediatric oncology, haematology and palliative care patients receiving care as close to home as possible. Following initial diagnosis, care planning and treatment at the tertiary children's hospital, appropriate local care was coordinated by Regional Case Managers (RCMs) established at each of 10 Shared Care Units (SCUs). This enabled safe and quality regional care supported by a statewide network providing clinical governance and education.

Location of end-of-life care of children with cancer: A systematic review of parent experiences.

Objective: To synthesize existing qualitative research exploring the experiences of parents caring for children with cancer during the end-of-life phase, and the factors that influence parental decision-making when choosing the location of end-of-life care and death for their child.

Results: This review included 15 studies of 460 parents of 333 children and adolescents who died from progressive cancer. Where reported, the majority (58%) of children died at home or in a hospital (39%), with only a small fraction dying in a hospice.

Familial long-read sequencing increases yield of de novo mutations.

Studies of de novo mutation (DNM) have typically excluded some of the most repetitive and complex regions of the genome because these regions cannot be unambiguously mapped with short-read sequencing data. To better understand the genome-wide pattern of DNM, we generated long-read sequence data from an autism parent-child quad with an affected female where no pathogenic variant had been discovered in short-read Illumina sequence data. We deeply sequenced all four individuals by using three sequencing platforms (Illumina, Oxford Nanopore, and Pacific Biosciences) and three complementary technologies (Strand-seq, optical mapping, and 10X Genomics).

Contemporary loss of migration in monarch butterflies.

The annual migration of the monarch butterfly is in peril. In an effort to aid population recovery, monarch enthusiasts across North America participate in a variety of conservation efforts, including captive rearing and release of monarch butterflies throughout the summer and autumn. However, the impact of captive breeding on monarchs remains an open question.