The American Journal of Human Genetics This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

FastRNA: An efficient solution for PCA of single-cell RNA-sequencing data based on a batch-accounting count model
FastRNA is an efficient data analysis framework for single-cell RNA-seq. With unique algebraic techniques, it reduced time and memory requirement by orders of magnitude. When applied to an atlas-scale dataset with 2 million cells, it takes 1  min and 1 GB of memory to complete feature selection and dimension reduction. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - October 6, 2022 Category: Genetics & Stem Cells Authors: Hanbin Lee, Buhm Han Tags: Article Source Type: research

De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
We report eight individuals with rare heterozygous variants in FRMD5 who present with developmental delay, intellectual disability, ataxia and abnormalities of eye movement. Experimental evidence based on Drosophila studies and protein structure predictions indicate that these variants cause loss-of-function as well as dominant-negative effects. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - October 6, 2022 Category: Genetics & Stem Cells Authors: Shenzhao Lu, Mengqi Ma, Xiao Mao, Carlos A. Bacino, Joseph Jankovic, V. Reid Sutton, James A. Bartley, Xueying Wang, Jill A. Rosenfeld, Ana Beleza-Meireles, Jaynee Chauhan, Xueyang Pan, Megan Li, Pengfei Liu, Katrina Prescott, Sam Amin, George Davies, Mic Tags: Report Source Type: research

Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis
Genetic modifiers play a significant role in two independent complications of cystic fibrosis (CF): neonatal intestinal obstruction and diabetes. Whole-genome sequencing followed by common and rare variant association identified pleiotropic loci displaying concordant and/or discordant modification of each trait, revealing unexpected mechanistic overlap between distinct complications of CF. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - October 6, 2022 Category: Genetics & Stem Cells Authors: Melis A. Aksit, Hua Ling, Rhonda G. Pace, Karen S. Raraigh, Frankline Onchiri, Anna V. Faino, Kymberleigh Pagel, Elizabeth Pugh, Adrienne M. Stilp, Quan Sun, Elizabeth E. Blue, Fred A. Wright, Yi-Hui Zhou, Michael J. Bamshad, Ronald L. Gibson, Michael R. Tags: Article Source Type: research

Segregation analysis of 17,425 population-based breast cancer families: Evidence for genetic susceptibility and risk prediction
A large population-based family study, with gene-panel sequencing data, investigated the genetic models that explain the residual breast cancer familial aggregation after considering known susceptibility genes. The results may have implications for strategies to identify new breast cancer-susceptibility genes and improve disease-risk prediction, especially at a young age. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - October 6, 2022 Category: Genetics & Stem Cells Authors: Shuai Li, Robert J. MacInnis, Andrew Lee, Tu Nguyen-Dumont, Leila Dorling, Sara Carvalho, Gillian S. Dite, Mitul Shah, Craig Luccarini, Qin Wang, Roger L. Milne, Mark A. Jenkins, Graham G. Giles, Alison M. Dunning, Paul D.P. Pharoah, Melissa C. Southey, D Tags: Article Source Type: research

This month in The Journal
Yin et  al., p. 1727 (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - October 6, 2022 Category: Genetics & Stem Cells Authors: Kylee L. Spencer, Sara B. Cullinan Tags: Editors' Corner Source Type: research