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Edward B.Lewis' science is the bridge linking experimental genetics as conducted in the first half of the twentieth century, and the powerful molecular genetic approaches that revolutionized the field in its last quarter.

\"In The Disappearing Spoon, bestselling author Sam Kean unlocked the mysteries of the periodic table. In THE VIOLINIST'S THUMB, he explores the wonders of the magical building block of life: DNA. There are genes to explain crazy cat ladies, why other people have no fingerprints, and why some people survive nuclear bombs. Genes illuminate everything from JFK's bronze skin (it wasn't a tan) to Einstein's genius. They prove that Neanderthals and humans bred thousands of years more recently than any of us would feel comfortable thinking. They can even allow some people, because of the exceptional flexibility of their thumbs and fingers, to become truly singular violinists. Kean's vibrant storytelling once again makes science entertaining, explaining human history and whimsy while showing how DNA will influence our species' future\"-- Provided by publisher.

In most cases, a reproductive couple will only become aware of their increase chance of their offspring having an autosomal recessive or X-linked condition, when a child is born into that family with one of these rare genetic diseases. There is screening available for specific conditions where there is a strong family history. Can or should this screening be offered to the general population? We certainly have the genomic sequencing technology via mass expanded reproductive carrier screening. Would it be acceptable? The Mackenzie’s Mission Investigators, Kirk E et al (N Engl J Med 2024;391:1877–1889. DOI: 10.1056/NEJMoa2314768), have asked these questions and several other questions such as : What genes and conditions should be included in a screening programme? How is screening best offered to the general population? Who would take up the offer of screening? How should laboratories determine which variants to report? What reproductive decisions are made by those with an increased chance of having a child with a genetic condition? How do people view and experience reproductive genetic carrier screening? This Australian study investigated the acceptability, feasibility and outcomes of a nationwide, couple-based genetic carrier screening. They enrolled 10 038 reproductive couples into the study with an impressive 9107 (90.7%) participation and completion of the screening. Enrolment was through healthcare practitioners who gave potential participants a study invitation or test request form that included a web address and a unique code, which granted access to an online portal. The details of the enrolment through the portal is important. Participants created an online profile, giving consent to participate in the study and uploading demographic information. They were asked to review an education module about reproductive genetic carrier screening with a tool to aid in decision making. They screened for 1300 genes associated with more than 750 serious, childhood-onset X-linked or autosomal recessive conditions. There were 175 (1.9%) couples who were newly identified as having an increased chance of having a child with a genetic condition. These conditions involved pathogenic variants in 90 different genes; 74.3% of the conditions were autosomal recessive. They were contacted by a genetic counsellor (part of the research team), provided with genetic counselling, and if needed were referred to a subspecialist for advice and to a support organisation for the condition. They then revested the participants at 3 months, and 76.6% of the couples with a newly identified increased chance had used or planned to use reproductive interventions to avoid having an affected child. Those newly identified as having an increased chance had greater anxiety than those with a low chance. The median level of decisional regret (using The Decision Regret Scale) was low in all result groups, and 98.9% of participants perceived screening to be acceptable. There are several outcomes reported in the paper. So, the main conclusion is that couple-based reproductive genetic carrier screening is acceptable to participants and was used to inform reproductive decision making.

Sequential techniques can enhance the efficiency of the approximate Bayesian computation algorithm, as in Sisson et al.'s (2007) partial rejection control version. While this method is based upon the theoretical works of Del Moral et al. (2006), the application to approximate Bayesian computation results in a bias in the approximation to the posterior. An alternative version based on genuine importance sampling arguments bypasses this difficulty, in connection with the population Monte Carlo method of Cappé et al. (2004), and it includes an automatic scaling of the forward kernel. When applied to a population genetics example, it compares favourably with two other versions of the approximate algorithm.