Shahar Taiber,Kathleen Gwilliam,Ronna Hertzano et al.
Shahar Taiber et al.
Current estimates suggest that nearly half a billion people worldwide are affected by hearing loss. Because of the major psychological, social, economic, and health ramifications, considerable efforts have been invested in identifying the g...
Marco Raffaele Cosenza,Bernardo Rodriguez-Martin,Jan O Korbel
Marco Raffaele Cosenza
Somatic rearrangements resulting in genomic structural variation drive malignant phenotypes by altering the expression or function of cancer genes. Pan-cancer studies have revealed that structural variants (SVs) are the predominant class of...
The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies [0.03%]
Joubert-Meckel- nephronophthisis纤毛病谱系
Julie C Van De Weghe,Arianna Gomez,Dan Doherty
Julie C Van De Weghe
The Joubert syndrome (JS), Meckel syndrome (MKS), and nephronophthisis (NPH) ciliopathy spectrum could be the poster child for advances and challenges in Mendelian human genetics over the past half century. Progress in understanding these c...
Vineet Bafna,Paul S Mischel
Vineet Bafna
In cancer, complex genome rearrangements and other structural alterations, including the amplification of oncogenes on circular extrachromosomal DNA (ecDNA) elements, drive the formation and progression of tumors. ecDNA is a particularly ch...
Mary Armanios
Mary Armanios
Telomere biology was first studied in maize, ciliates, yeast, and mice, and in recent decades, it has informed understanding of common disease mechanisms with broad implications for patient care. Short telomere syndromes are the most preval...
Ambroise Wonkam,Nchangwi S Munung,Collet Dandara et al.
Ambroise Wonkam et al.
To embrace the prospects of accurately diagnosing thousands of monogenic conditions, predicting disease risks for complex traits or diseases, tailoring treatment to individuals' pharmacogenetic profiles, and potentially curing some diseases...
Magda Marečková,Hassan Massalha,Valentina Lorenzi et al.
Magda Marečková et al.
The trillions of cells in the human body develop as a result of the fusion of two extremely specialized cells: an oocyte and a sperm. This process is essential for the continuation of our species, as it ensures that parental genetic informa...
Veronica van Heyningen
Veronica van Heyningen
Although my engagement with human genetics emerged gradually, and sometimes serendipitously, it has held me spellbound for decades. Without my teachers, students, postdocs, colleagues, and collaborators, I would not be writing this review o...
Marina Cerrone,Sarah Costa,Mario Delmar
Marina Cerrone
Brugada syndrome is a heritable channelopathy characterized by a peculiar electrocardiogram (ECG) pattern and increased risk of cardiac arrhythmias and sudden death. The arrhythmias originate because of an imbalance between the repolarizing...
Ethical Guidance in Human Paleogenomics: New and Ongoing Perspectives [0.03%]
人类古基因组学的伦理指导：新的和正在进行的观点
Raquel E Fleskes,Alyssa C Bader,Krystal S Tsosie et al.
Raquel E Fleskes et al.
Over the past two decades, the study of ancient genomes from Ancestral humans, or human paleogenomic research, has expanded rapidly in both scale and scope. Ethical discourse has subsequently emerged to address issues of social responsibili...