Homburger, Julian R. Neben, Cynthia L. Mishne, Gilad Zhou, Alicia Y. Kathiresan, Sekar Khera, Amit V.
Published in
Genome Medicine
BackgroundInherited susceptibility to common, complex diseases may be caused by rare, pathogenic variants (“monogenic”) or by the cumulative effect of numerous common variants (“polygenic”). Comprehensive genome interpretation should enable assessment for both monogenic and polygenic components of inherited risk. The traditional approach requires t...
Zhang, Jian Hu, Xihao Wang, Jin Sahu, Avinash Das Cohen, David Song, Li Ouyang, Zhangyi Fan, Jingyu Wang, Binbin Fu, Jingxin
...
Published in
Genome Medicine
BackgroundAcute myeloid leukemia (AML), caused by the abnormal proliferation of immature myeloid cells in the blood or bone marrow, is one of the most common hematologic malignancies. Currently, the interactions between malignant myeloid cells and the immune microenvironment, especially T cells and B cells, remain poorly characterized.MethodsIn thi...
Harrison, Steven M. Rehm, Heidi L.
Published in
Genome Medicine
In 2015, professional guidelines defined the term ‘likely pathogenic’ to mean with a 90% chance of pathogenicity. To determine whether current practice reflects this definition, ClinVar classifications were tracked from 2016 to 2019. During that period, between 83.8 and 99.1% of likely pathogenic classifications were reclassified as pathogenic, dep...
Mardis, Elaine R.
Published in
Genome Medicine
The resurgence of immune therapies in cancer medicine has elicited a corresponding interest in understanding the basis of patient response or resistance to these treatments. One aspect of patient response clearly lies in the genomic alterations that are associated with cancer onset and progression, including those that contribute to genomic instabi...
Dias, Raquel Torkamani, Ali
Published in
Genome Medicine
Artificial intelligence (AI) is the development of computer systems that are able to perform tasks that normally require human intelligence. Advances in AI software and hardware, especially deep learning algorithms and the graphics processing units (GPUs) that power their training, have led to a recent and rapidly increasing interest in medical AI ...
Zhu, Na Pauciulo, Michael W. Welch, Carrie L. Lutz, Katie A. Coleman, Anna W. Gonzaga-Jauregui, Claudia Wang, Jiayao Grimes, Joseph M. Martin, Lisa J. He, Hua
...
Published in
Genome Medicine
BackgroundGroup 1 pulmonary arterial hypertension (PAH) is a rare disease with high mortality despite recent therapeutic advances. Pathogenic remodeling of pulmonary arterioles leads to increased pulmonary pressures, right ventricular hypertrophy, and heart failure. Mutations in bone morphogenetic protein receptor type 2 and other risk genes predis...
Lindstrand, Anna Eisfeldt, Jesper Pettersson, Maria Carvalho, Claudia M. B. Kvarnung, Malin Grigelioniene, Giedre Anderlid, Britt-Marie Bjerin, Olof Gustavsson, Peter Hammarsjö, Anna
...
Published in
Genome Medicine
BackgroundSince different types of genetic variants, from single nucleotide variants (SNVs) to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use of whole-genome sequencing (WGS) rather than chromosomal microarray analysis (CMA) as a first-line genetic diagnostic test.MethodsWe analyzed three cohorts with short...
Zhou, Chi Wei, Zhiting Zhang, Zhanbing Zhang, Biyu Zhu, Chenyu Chen, Ke Chuai, Guohui Qu, Sheng Xie, Lu Gao, Yong
...
Published in
Genome Medicine
BackgroundCancer neoantigens are expressed only in cancer cells and presented on the tumor cell surface in complex with major histocompatibility complex (MHC) class I proteins for recognition by cytotoxic T cells. Accurate and rapid identification of neoantigens play a pivotal role in cancer immunotherapy. Although several in silico tools for neoan...
Lorente-Sorolla, Clara Garcia-Gomez, Antonio Català-Moll, Francesc Toledano, Víctor Ciudad, Laura Avendaño-Ortiz, José Maroun-Eid, Charbel Martín-Quirós, Alejandro Martínez-Gallo, Mónica Ruiz-Sanmartín, Adolfo
...
Published in
Genome Medicine
BackgroundSepsis, a life-threatening organ dysfunction caused by a dysregulated systemic immune response to infection, associates with reduced responsiveness to subsequent infections. How such tolerance is acquired is not well understood but is known to involve epigenetic and transcriptional dysregulation.MethodsBead arrays were used to compare glo...
Chow, Julie Jensen, Matthew Amini, Hajar Hormozdiari, Farhad Penn, Osnat Shifman, Sagiv Girirajan, Santhosh Hormozdiari, Fereydoun
Published in
Genome Medicine
BackgroundNeurodevelopmental disorders (NDDs) such as autism spectrum disorder, intellectual disability, developmental disability, and epilepsy are characterized by abnormal brain development that may affect cognition, learning, behavior, and motor skills. High co-occurrence (comorbidity) of NDDs indicates a shared, underlying biological mechanism....
