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.

Investigating the potential of single-cell DNA methylation data to detect allele-specific methylation and imprinting
We developed a method to infer allele-specific methylation from single-cell bisulfite sequencing data and applied this approach to data derived from healthy B cell and chronic lymphocytic leukemia samples. Our method performed well compared to an approach dependent on nearby genetic variants and identified sites that preferentially overlapped imprinted genes. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - March 11, 2024 Category: Genetics & Stem Cells Authors: Nicholas D. Johnson, David J. Cutler, Karen N. Conneely Tags: Article Source Type: research

2023 ASHG Lifetime Achievement Award: “If you want to go fast, go alone; if you want to go far, go together”
This article is based on the address given by the author at the 2023 meeting of The American Society of Human Genetics (ASHG). A video of the original address can be found at the ASHG website. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - March 7, 2024 Category: Genetics & Stem Cells Authors: Neil Risch Tags: ASHG Awards and Addresses Source Type: research

Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models
(The American Journal of Human Genetics 109, 1789 –1813; October 6, 2022) (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - March 7, 2024 Category: Genetics & Stem Cells Authors: Derek J.C. Tai, Parisa Razaz, Serkan Erdin, Dadi Gao, Jennifer Wang, Xander Nuttle, Celine E. de Esch, Ryan L. Collins, Benjamin B. Currall, Kathryn O ’Keefe, Nicholas D. Burt, Rachita Yadav, Lily Wang, Kiana Mohajeri, Tatsiana Aneichyk, Ashok Ragavendr Tags: Correction Source Type: research

STIGMA: Single-cell tissue-specific gene prioritization using machine learning
(The American Journal of Human Genetics 111, 338 –349; February 1, 2024) (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - March 7, 2024 Category: Genetics & Stem Cells Authors: Saranya Balachandran, Cesar A. Prada-Medina, Martin A. Mensah, Juliane Glaser, Naseebullah Kakar, Inga Nagel, Jelena Pozojevic, Enrique Audain, Marc-Phillip Hitz, Martin Kircher, Varun K.A. Sreenivasan, Malte Spielmann Tags: Correction Source Type: research

2023 ASHG Leadership Award
This article is based on the address given by the author at the 2023 meeting of The American Society of Human Genetics (ASHG). A video of the original address can be found at the ASHG website. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - March 7, 2024 Category: Genetics & Stem Cells Authors: Nancy J. Cox Tags: ASHG Awards and Addresses Source Type: research

2023 ASHG Leadership Award: Nancy Cox
This article is based on the address given by the author at the 2023 meeting of the American Society of Human Genetics (ASHG) in Washington, D.C. The video of the original address can be found at the ASHG website. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - March 7, 2024 Category: Genetics & Stem Cells Authors: Michael Boehnke Tags: ASHG Awards and Addresses Source Type: research

2023 ASHG Scientific Achievement Award
This article is based on the address given by the author at the 2023 meeting of The American Society of Human Genetics (ASHG) in Washington, D.C. A video of the original address can be found at the ASHG website. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - March 7, 2024 Category: Genetics & Stem Cells Authors: Molly Przeworski Tags: ASHG Awards and Addresses Source Type: research

2023 ASHG Scientific Achievement Award: Molly Przeworski
This article is based on the address given by the author at the 2023 meeting of The American Society of Human Genetics (ASHG) in Washington, D.C. The video of the original address can be found at the ASHG website. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - March 7, 2024 Category: Genetics & Stem Cells Authors: Jay Shendure Tags: ASHG Awards and Addresses Source Type: research

2023 lifetime achievement award: “If you want to go fast, go alone; if you want to go far, go together”
This article is based on the address given by the author at the 2023 meeting of The American Society of Human Genetics (ASHG). A video of the original address can be found at the ASHG website. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - March 7, 2024 Category: Genetics & Stem Cells Authors: Neil Risch Tags: ASHG Awards and Addresses Source Type: research

2023 ASHG Lifetime Achievement Award: Neil Risch
This article is based on the address given by the author for the 2023 meeting of The American Society of Human Genetics (ASHG) in Washington,  D.C. A video of the original address can be found at the ASHG website. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - March 7, 2024 Category: Genetics & Stem Cells Authors: Ophir Klein Tags: ASHG Awards and Addresses Source Type: research

2023 ASHG presidential address —Reflecting on our 75 years: Acknowledging our past, embracing our present, and dreaming about our future
This article is based on the address given by the author at the 2023 meeting of The American Society of Human Genetics (ASHG). A video of the original address can be found at the ASHG website. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - March 7, 2024 Category: Genetics & Stem Cells Authors: Brendan Lee Tags: ASHG Awards and Addresses Source Type: research

2023 ASHG awards and addresses
Each year at the annual meeting of the American Society of Human Genetics (ASHG), addresses are given in honor of the Society and several award winners. A summary of each of these is provided below. In 2023, ASHG renamed several of its awards; the historical names are provided below for context. On the following pages, we have printed the Presidential Address as well as the addresses for the Lifetime Achievement, Scientific Achievement, and Leadership awards. Recordings of these addresses, as well as those of many other presentations, can be found at http://www.ashg.org. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - March 7, 2024 Category: Genetics & Stem Cells Tags: ASHG Awards and Addresses Source Type: research

This Month in The Journal
In Our DNA SC, a program developed to ensure that all individuals in South Carolina have access to genomic screening, recently reached an interim milestone of 20,000 participants. Over 14  months, 20,478 participants enrolled, and 13,643 samples were collected through clinical appointments, 108 community events, or at-home sample collection. A total of 1.3% of participants were found to have a pathogenic or likely pathogenic variant for a CDC Tier 1 condition; 77.4% of those agreed to genetic counseling and 80.2% completed counseling. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - March 7, 2024 Category: Genetics & Stem Cells Authors: Alyson B. Barnes, Kylee L. Spencer, Sara B. Cullinan Tags: Editors' Corner Source Type: research

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
We identified bi-allelic variants in SNF8, encoding a subunit of the ESCRT-II complex, in individuals presenting with a disease spectrum ranging from epileptic encephalopathy to syndromic optic atrophy —findings also present in a zebrafish model. Functional experiments suggest impaired autophagic flux as the disease mechanism. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - February 28, 2024 Category: Genetics & Stem Cells Authors: Melanie Brugger, Antonella Lauri, Yan Zhen, Laura L. Gramegna, Benedikt Zott, Nikolina Sekuli ć, Giulia Fasano, Robert Kopajtich, Viviana Cordeddu, Francesca Clementina Radio, Cecilia Mancini, Simone Pizzi, Graziamaria Paradisi, Ginevra Zanni, Gessica Va Tags: Article Source Type: research

Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain
Combining results from a homology-directed repair functional assay with clinical and genetic data in an American College of Medical Genetics (ACMG)/AMP-like variant classification framework classified 97.5% of the evaluated BRCA2 non-splicing missense variants as pathogenic/likely pathogenic or benign/likely benign. The results should prove useful for clinical management of individuals with germline BRCA2 missense variants. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - February 27, 2024 Category: Genetics & Stem Cells Authors: Chunling Hu, Huaizhi Huang, Jie Na, Carolyn Lumby, Mohamed Abozaid, Megan A. Holdren, Tara J. Rao, Rachid Karam, Tina Pesaran, Jamie D. Weyandt, Christen M. Csuy, Christina A. Seelaus, Colin C. Young, Kelly Fulk, Zahra Heidari, Paulo Cilas Morais Lyra, Ro Tags: Article Source Type: research