A brief history of human disease genetics
M Claussnitzer, JH Cho, R Collins, NJ Cox… - Nature, 2020 - nature.com
A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …
biomedical traits, particularly those related to the onset and progression of human disease …
Genetics of human brain development
Brain development in humans is achieved through precise spatiotemporal genetic control,
the mechanisms of which remain largely elusive. Recently, integration of technological …
the mechanisms of which remain largely elusive. Recently, integration of technological …
Rare coding variants in ten genes confer substantial risk for schizophrenia
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new …
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new …
Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland
CF Wright, P Campbell, RY Eberhardt… - … England Journal of …, 2023 - Mass Medical Soc
Background Pediatric disorders include a range of highly penetrant, genetically
heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a …
heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a …
Evidence for 28 genetic disorders discovered by combining healthcare and research data
De novo mutations in protein-coding genes are a well-established cause of developmental
disorders. However, genes known to be associated with developmental disorders account …
disorders. However, genes known to be associated with developmental disorders account …
[HTML][HTML] Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
DB Beck, MA Ferrada, KA Sikora… - … England Journal of …, 2020 - Mass Medical Soc
Background Adult-onset inflammatory syndromes often manifest with overlapping clinical
features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory …
features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory …
The landscape of tolerated genetic variation in humans and primates
H Gao, T Hamp, J Ede, JG Schraiber, J McRae… - Science, 2023 - science.org
Personalized genome sequencing has revealed millions of genetic differences between
individuals, but our understanding of their clinical relevance remains largely incomplete. To …
individuals, but our understanding of their clinical relevance remains largely incomplete. To …
Predicting splicing from primary sequence with deep learning
The splicing of pre-mRNAs into mature transcripts is remarkable for its precision, but the
mechanisms by which the cellular machinery achieves such specificity are incompletely …
mechanisms by which the cellular machinery achieves such specificity are incompletely …
Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1
IE Obiorah, BA Patel, EM Groarke, W Wang… - Blood …, 2021 - ashpublications.org
Somatic mutations in UBA1 involving hematopoietic stem and myeloid cells have been
reported in patients with the newly defined VEXAS (vacuoles, E1 enzyme, X-linked …
reported in patients with the newly defined VEXAS (vacuoles, E1 enzyme, X-linked …