by Carine Vassy  , Laurence Brunet  and Christine Noiville

Received: 02 September 2021;  Published: 25 February 2022;  doi: 10.21926/obm.genet.2201149

This article examines the regulation of the screening of fetal abnormalities in France before and after the implementation of the new technique of non-invasive prenatal testing (NIPT) in 2013. In addition, this article evaluates the effectiveness of the regulatory framework in addressing the ethical and social issues raised by this technique from a legal and sociological perspective. The analysis reveals that the regulations, consistent with that applied to other prenatal screening techniques, fail to take proper a [...]

by OBM Genetics Editorial Office

Received: 17 February 2022;  Published: 22 February 2022;  doi: 10.21926/obm.genet.2201148

by Junhyeong T. Park  , Junseong A. Park  , Igor F. Tsigelny  and Valentina L. Kouznetsova

Received: 07 December 2021;  Published: 13 February 2022;  doi: 10.21926/obm.genet.2201147

The occurrence of various mutation patterns, such as changes in the DNA sequence and the loss of some sequences, is called a “mutational signature,” and they represent the molecular fingerprints that exist for the type of mutation occurring in a specific gene. Our study elucidates the correlations of mutational signatures in frequently mutated cancer genes with general mutational signatures previously found for different cancers. We hypothesized that the top twenty most frequently mutated genes (MFMG) of a cancer t [...]

by Jeffrey P. Brosco  , Talia Holzman Castellands  and Adriane Gelpi

Received: 22 August 2021;  Published: 21 January 2022;  doi: 10.21926/obm.genet.2201146

Investigating the historical origins of a well-accepted health program across a region, such as newborn screening in Latin America, has the potential to reveal the role of historically-specific drivers in shaping national health policy. We reviewed published reports on NBS in Latin America and interviewed newborn screening experts with experience in the region. We found trends suggesting that the decrease in infant mortality may be a prerequisite to investing in nationwide screening for rarer conditions. We also no [...]

by Niccolo Caldararo

Received: 19 October 2021;  Published: 11 January 2022;  doi: 10.21926/obm.genet.2201145

The evolution of hominins, members of the zoological tribe Hominini, has been a much-studied topic, and the construction of phylogenetic trees has been the key method in molecular evolutionary studies. How scientists determine the phylogenetic trees are governed by the assumptions they place on the construction of similarities and differences in morphological traits, the differences in the number of base pairs in the genomes, and the number of similar gene clusters that code for traits (haplotypes) or are error seq [...]

by OBM Genetics Editorial Office

Received: 05 January 2022;  Published: 06 January 2022;  doi: 10.21926/obm.genet.2201144

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2021. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer contributions through several mechanisms, of which the annual publication of reviewer names is one. Reviewers receive a voucher entitling them to a discount on their next LIDSEN publication and can download a certificate of recognition direct [...]

by Sean J. O’Sullivan

Received: 17 June 2021;  Published: 17 November 2021;  doi: 10.21926/obm.genet.2104143

Advances in clinical psychiatry have been less than hoped for relative to the achievements in neuroscience. However, developments in neuromodulation and psychedelic therapy are promising. The efficacy of such treatments and canonical pharmacotherapies benefit from genetics and personalized medicine. Moreover, recent studies on the perturbation of transcription, including chromatin remodeling, in mental illness emphasized the importance of single-cell qPCR as an investigatory method that bolstered psychiatry. This [...]

by Sarah Long  , Roanna Lobo  , Peter O'Leary  and Jan E. Dickinson

Received: 07 September 2021;  Published: 03 November 2021;  doi: 10.21926/obm.genet.2104142

Non-invasive prenatal testing (NIPT) for a panel of 25 single gene disorders became available in Western Australia in 2020 and potentially may be able to test for panels of hundreds of disorders as is the case with reproductive carrier screening. How this information would be used by parents in a population screening model is unknown. We used a phenomenological approach to explore retrospectively whether mothers of children with single gene or chromosomal disorders would have wanted to know about their child’s gene [...]

by Jean GOLDING  , Rosie Clark  , Steven Gregory  , Genette Ellis  , Matthew Suderman  , Yasmin Iles-Caven  and Marcus E. Pembrey

Received: 17 May 2021;  Published: 29 October 2021;  doi: 10.21926/obm.genet.2104141

The FRAXE section of the FMR2 gene, located on the X chromosome, contains varying numbers of trinucleotide repeats; boys with over 200 repeats tend to have mild cognitive impairments, though this is rare. Little is known, however, concerning the phenotypes of individuals with smaller numbers of repeats. Here we answer the research question as to whether the health of ancestors of boys from whom the relevant X chromosome was inherited differed in any way according to the number of FRAXE repeats. Numbers of FRAXE rep [...]

by Daniel Navon  and Gareth Thomas

Received: 15 July 2021;  Published: 09 October 2021;  doi: 10.21926/obm.genet.2104140

In this article, we discuss the radical uncertainties unleashed by expanded prenatal genetics. We show how we are now routinely screening fetuses in the absence of two essential sorts of information. At the population level, we do not have sound, unbiased data about the prevalence, penetrance, and clinical variability of most mutations. At the level of the proband, it is often too soon to discern relevant information about the fetus’ phenotype. First, we outline the longstanding ethical objections to newborn screen [...]