Results 71 to 80 of about 10,524,108 (363)

Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders

Genome Medicine
Background A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants ...
Mathilde Geysens, Benjamin Huremagic, Erika Souche, Jeroen Breckpot, Koenraad Devriendt, Hilde Peeters, Griet Van Buggenhout, Hilde Van Esch, Kris Van Den Bogaert, Joris Robert Vermeesch   +9 more
doaj   +1 more source

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

eLife, 2016
Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is treated surgically in infancy to prevent adverse neurologic outcomes.
Andrew T Timberlake, Jungmin Choi, Samir Zaidi, Qiongshi Lu, Carol Nelson-Williams, Eric D Brooks, Kaya Bilguvar, Irina Tikhonova, Shrikant Mane, Jenny F Yang, Rajendra Sawh-Martinez, Sarah Persing, Elizabeth G Zellner, Erin Loring, Carolyn Chuang, Amy Galm, Peter W Hashim, Derek M Steinbacher, Michael L DiLuna, Charles C Duncan, Kevin A Pelphrey, Hongyu Zhao, John A Persing, Richard P Lifton   +23 more
doaj   +1 more source

Human Genetics of Obesity and Type 2 Diabetes Mellitus

Circulation Genomic and Precision Medicine, 2018
Type 2 diabetes mellitus (T2D) and obesity already represent 2 of the most prominent risk factors for cardiovascular disease, and are destined to increase in importance given the global changes in lifestyle. Ten years have passed since the first round of
E. Ingelsson, M. McCarthy
semanticscholar   +1 more source

ASSIST: Refinement of a Benefits Navigator Intervention Among Low‐Income Pediatric Oncology Families

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background/Objectives Children with cancer living in poverty experience worse survival and quality of life. Interventions connecting low‐income families to benefits (e.g., Supplemental Nutrition Assistance Program [SNAP] improve health outcomes; yet nearly 50% of SNAP‐eligible pediatric oncology families are unenrolled.
Puja J. Umaretiya, Selena Murcia Mendez, Jennifer Kellett, Sarah Wright, Marisel Ponton, Robin T. Higashi, Rahela Aziz‐Bose, Colleen A. Kelly, Ayesha Zia, Joanne Wolfe, Sandi L. Pruitt, Kira Bona   +11 more
wiley   +1 more source

The FAIR data point populator: collaborative FAIRification and population of FAIR data points

BMC Medical Informatics and Decision Making
Background Use of the FAIR principles (Findable, Accessible, Interoperable and Reusable) allows the rapidly growing number of biomedical datasets to be optimally (re)used. An important aspect of the FAIR principles is metadata.
Daphne Wijnbergen, Rajaram Kaliyaperumal, Kees Burger, Luiz Olavo Bonino da Silva Santos, Barend Mons, Marco Roos, Eleni Mina   +6 more
doaj   +1 more source

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

Nature Communications, 2018
Hundreds of thousands of human whole genome sequencing (WGS) datasets will be generated over the next few years. These data are more valuable in aggregate: joint analysis of genomes from many sources increases sample size and statistical power. A central
Allison A. Regier, Y. Farjoun, D. Larson, O. Krasheninina, H. Kang, D. Howrigan, Bo-Juen Chen, Manisha Kher, E. Banks, Darren C. Ames, A. English, Heng Li, Jinchuan Xing, Yeting Zhang, T. Matise, G. Abecasis, W. Salerno, M. Zody, B. Neale, Ira M. Hall   +19 more
semanticscholar   +1 more source

Tracking Health Related Quality of Life From Diagnosis to Follow‐Up Among Australian Children With Acute Lymphoblastic Leukaemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Acute lymphoblastic leukaemia (ALL) is one of the most treatable forms of paediatric cancer; however, there is a substantial burden of treatment‐related toxicities (TRTs). In addition, the long‐term changes in children's health‐related quality of life (HRQoL) due to toxic treatments are not well understood.
Clare Ghows, Clarissa E. Schilstra, Karen McCleary, Nancy E. Briggs, Rishi S. Kotecha, Richard De Abreu Lourenco, Shanti Ramachandran, Ruelleyn Cockcroft, Rachel Conyers, Siobhan Cross, Luciano Dalla‐Pozza, Peter Downie, Tamas Revesz, Michael Osborn, Frank Alvaro, Claire E. Wakefield, Glenn M. Marshall, Toby Trahair, Marion K. Mateos, Joanna E. Fardell   +19 more
wiley   +1 more source

Conflation of Short Identity-by-Descent Segments Bias Their Inferred Length Distribution

G3: Genes, Genomes, Genetics, 2016
Identity-by-descent (IBD) is a fundamental concept in genetics with many applications. In a common definition, two haplotypes are said to share an IBD segment if that segment is inherited from a recent shared common ancestor without intervening ...
Charleston W. K. Chiang, Peter Ralph, John Novembre   +2 more
doaj   +1 more source

Human Genetics of Addiction: New Insights and Future Directions

Current Psychiatry Reports, 2018
Purpose of ReviewWith the advent of the genome-wide association study (GWAS), our understanding of the genetics of addiction has made significant strides forward.
D. Hancock, Christina A Markunas, L. Bierut, Eric O. Johnson   +3 more
semanticscholar   +1 more source

Genetics of Human Growth

Clinical Pediatric Endocrinology, 2006
Genes involved in human growth consist of major growth genes and minor growth genes. Major growth genes have fundamental effects on human growth, and their mutations cause growth failure (or overgrowth) which are recognizable as single gene disorders.
openaire   +3 more sources