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Although imputation of missing SNP results has been widely used in genetic studies, claims about the quality and usefulness of imputation have outnumbered the few studies that have questioned its limitations. But it is becoming clear that these limitations are real—for example, disease...
The PhenX Toolkit (https://www.phenxtoolkit.org/) is an online catalog of recommended measurement protocols to facilitate cross‐study analyses for biomedical research. An expert review panel (ERP) reviewed and updated the PhenX Toolkit Speech and Hearing domain to improve the precision and...
Ataxia telangiectasia (AT) is a rare autosomal recessive multisystemic disorder. It usually presents in toddler years with progressive ataxia and oculomotor apraxia, or less commonly, in the late‐first or early‐second decade of life with mixed movement disorders. Biallelic mutations in ataxia...
During a routine test, we identified a 38‐year‐old man who had a positive hematology screening result but was negative for hot spot variants of his thalassemia gene. Further analysis identified β–50 (HBB: c.‐100G>A). It was first suggested that β–50 was a β+‐thal allele, and some research groups...
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