Genetic and Genomic Medicine

Genotype-specific differences in infertile men due to loss-of-function variants in M1AP or ZZS genes

1. Nadja Rotte
2. Jessica E.M. Dunleavy
3. Michelle D. Runkel
4. Daniela Fietz
5. Adrian Pilatz
6. Johanna Kuss
7. Ann-Kristin Dicke
8. Sofia B. Winge
9. Sara Di Persio
10. Christian Ruckert
11. Verena Nordhoff
12. Hans-Christian Schuppe
13. Kristian Almstrup
14. Sabine Kliesch
15. Nina Neuhaus
16. Birgit Stallmeyer
17. Moira K. O’Bryan
18. Frank Tüttelmann
19. Corinna Friedrich

Reviewed by Review Commons

Genomic landscape of endometrial, ovarian and cervical cancers in Japan from database in the Center for Cancer Genomics and Advanced Therapeutics

1. Qian Xi
2. Hidenori Kage
3. Miho Ogawa
4. Asami Matsunaga
5. Akira Nishijima
6. Kenbun Sone
7. Kei Kawana
8. Katsutoshi Oda

Reviewed by PREreview

Explaining the counter-intuitive effectiveness of trophectoderm biopsy for PGT-A using computational modelling

1. Benjamin M Skinner
2. Manuel Viotti
3. International Registry of Mosaic Embryo Transfers (IRMET)
4. Darren K Griffin
5. Peter JI Ellis

• Curated by eLife

  eLife assessment

  This study presents a valuable computational model for elaborating on the interpretation of chromosomal mosaicism in preimplantation embryos. The evidence supporting the claims of the authors is incomplete due to the assumption that is possible to quantify the cells in the embryo, oversimplification of mitotic errors, and the inclusion of the self-correction premise. The work will be of interest to embryologists, and geneticists working on reproductive medicine.

Reviewed by eLife

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

1. Xueyang Pan
2. Albert N Alvarez
3. Mengqi Ma
4. Shenzhao Lu
5. Michael W Crawford
6. Lauren C Briere
7. Oguz Kanca
8. Shinya Yamamoto
9. David A Sweetser
10. Jenny L Wilson
11. Ruth J Napier
12. Jonathan N Pruneda
13. Hugo J Bellen

• Curated by eLife

  eLife assessment

  The authors establish a Drosophila model to assess the severity of disease-linked alleles of Uba5. Using both in vivo and in vitro experiments, this valuable study demonstrates the alleles fall into mild, intermediate, and severe classes, with convincing evidence to support their conclusion. This well-executed study establishes a model for further characterization of Uba5-related phenotypes in a powerful model system.

Reviewed by eLife

Novel discoveries and enhanced genomic prediction from modelling genetic risk of cancer age-at-onset

1. Ekaterina S. Maksimova
2. Sven E. Ojavee
3. Kristi Läll
4. Marie C. Sadler
5. Reedik Mägi
6. Zoltan Kutalik
7. Matthew R. Robinson

• Curated by eLife

  eLife assessment

  This manuscript is a useful contribution to the field of complex trait genomics. The study does have some real strengths, such as focusing on cancer age-of-onset, developing methods for this unusual trait and using two cohorts. However, the significance of findings is difficult to evaluate without further comparisons and validations, leaving the work in its current form incomplete.

Reviewed by eLife

Multi-omics analysis in human retina uncovers ultraconserved cis -regulatory elements at rare eye disease loci

1. Victor Lopez Soriano
2. Alfredo Dueñas Rey
3. Rajarshi Mukherjee
4. Genomics England Research Consortium
5. Frauke Coppieters
6. Miriam Bauwens
7. Andy Willaert
8. Elfride De Baere

Reviewed by Review Commons