by Myrto Poulou  and Maria Tzetis

Received: 31 July 2017;  Published: 01 November 2017;  doi: 10.21926/obm.genet.1704010

Cystic Fibrosis (CF) is one of the commonest autosomal recessive genetic diseases that show a high carrier frequency amongst Caucasian populations. Although there has been tremendous progress in the available therapies, compared to the past, the disease is still associated with significant morbidity [...]

by Karen Sermon

Received: 11 August 2017;  Published: 26 October 2017;  doi: 10.21926/obm.genet.1704009

The main aim of PGS has always been to improve IVF outcome, especially in patient groups assumed to have higher rates of chromosomally abnormal embryos, such as patients of advanced maternal age. In that sense, PGS is quite different from other types of screening as discussed in other papers in this [...]

by Kazuki Mochizuki  , Chihiro Imai  , Noriko Sato  and Takeo Kubota

Received: 20 June 2017;  Published: 19 October 2017;  doi: 10.21926/obm.genet.1704008

A number of epidemiological studies have suggested that environmental stresses, such as malnutrition during the fetal period, can induce development of metabolic disorders, such as obesity, type 2 diabetes and hypertension, and psychiatric disorders in later life. This theory is known as the Develop [...]

by Sylvie Langlois  and R Douglas Wilson

Received: 01 August 2017;  Published: 26 September 2017;  doi: 10.21926/obm.genet.1703007

Prenatal genetic aneuploidy screening approaches are designed to identify pregnant patients at increased risk of having a fetus affected. Conventional prenatal screening has consisted in providing women a risk estimate of having a pregnancy affected with trisomy 21 or trisomy 18 based on maternal ag [...]

by Anne-Marie Laberge  and Wylie Burke

Received: 30 July 2017;  Published: 21 September 2017;  doi: 10.21926/obm.genet.1703006

Genetic screening is the process of systematically evaluating a defined population for genetic conditions or predispositions, in the hope of providing benefit to those with a positive result. With advances in sequencing technology, genetic screening is moving from phenotype-based to genotype-based t [...]

by John Old  and Cornelis Harteveld

Received: 03 July 2017;  Published: 14 August 2017;  doi: 10.21926/obm.genet.1703005

Carrier screening for the haemoglobinopathies has undergone many technological improvements in haematological and molecular diagnostic techniques since the first prenatal diagnoses by DNA analysis in the 1970s by Southern blot analysis enabled the implementation of effective successful prevention pr [...]

by Mark Stoneking

Received: 10 April 2017;  Published: 02 June 2017;  doi: 10.21926/obm.genet.1702004

none, this is an opinion piece

by Joep Geraedts

Received: 13 April 2017;  Published: 26 April 2017;  doi: 10.21926/obm.genet.1702003

Mark Stoneking, who is a member of the Editorial Board of OBM Genetics has written a textbook on molecular anthropology

by Ron Hochstenbach  , Martin Poot  and Thomas Liehr

Received: 15 November 2016;  Published: 10 February 2017;  doi: 10.21926/obm.genet.1701002

Small supernumerary marker chromosomes (sSMCs) are centric chromosome fragments additionally present in an otherwise normal human chromosome set that cannot be characterized by classical cytogenetic techniques alone. The majority of sSMCs are not yet related to a defined clinical phenotype. We compi [...]

by Joep Geraedts

Received: 16 January 2017;  Published: 10 February 2017;  doi: 10.21926/obm.genet.1701001