{"title":"印度成年后天性再生障碍性贫血患者的全外显子组测序：三级医院的初步经验。","authors":"Sudhir Mehta, Krishna Mohan Medicherla, Sandhya Gulati, Nidhi Sharma, Rabia Parveen, Ashwani Kumar Mishra, Sonal Gupta, Prashanth Suravajhala","doi":"10.3390/diseases12090225","DOIUrl":null,"url":null,"abstract":"<p><p>Aplastic anaemia (AA) is a rare hypocellular bone marrow disease with a large number of mutations in the telomerase reverse transcriptase gene (TERT), leading to bone marrow failure. We used our benchmarked whole exome sequencing (WES) pipeline to identify variants in adult Indian subjects with apparently acquired AA. For 36 affected individuals, we sequenced coding regions to a mean coverage of 100× and a sufficient depth was achieved. Downstream validation and filtering to call mutations in patients treated with Cyclosporin A (CsA) identified variants associated with AA. We report four mutations across the genes associated with the AA, <i>TERT</i> and <i>CYP3A5</i>, in addition to other genes, viz., <i>IFNG</i>, <i>PIGA</i>, <i>NBS</i>/<i>NBN</i>, and <i>MPL</i>. We demonstrate the application of WES to discover the variants associated with CsA responders and non-responders in an Indian cohort.</p>","PeriodicalId":72832,"journal":{"name":"Diseases (Basel, Switzerland)","volume":null,"pages":null},"PeriodicalIF":2.9000,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11430975/pdf/","citationCount":"0","resultStr":"{\"title\":\"Whole Exome Sequencing of Adult Indians with Apparently Acquired Aplastic Anaemia: Initial Experience at Tertiary Care Hospital.\",\"authors\":\"Sudhir Mehta, Krishna Mohan Medicherla, Sandhya Gulati, Nidhi Sharma, Rabia Parveen, Ashwani Kumar Mishra, Sonal Gupta, Prashanth Suravajhala\",\"doi\":\"10.3390/diseases12090225\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Aplastic anaemia (AA) is a rare hypocellular bone marrow disease with a large number of mutations in the telomerase reverse transcriptase gene (TERT), leading to bone marrow failure. We used our benchmarked whole exome sequencing (WES) pipeline to identify variants in adult Indian subjects with apparently acquired AA. For 36 affected individuals, we sequenced coding regions to a mean coverage of 100× and a sufficient depth was achieved. Downstream validation and filtering to call mutations in patients treated with Cyclosporin A (CsA) identified variants associated with AA. We report four mutations across the genes associated with the AA, <i>TERT</i> and <i>CYP3A5</i>, in addition to other genes, viz., <i>IFNG</i>, <i>PIGA</i>, <i>NBS</i>/<i>NBN</i>, and <i>MPL</i>. We demonstrate the application of WES to discover the variants associated with CsA responders and non-responders in an Indian cohort.</p>\",\"PeriodicalId\":72832,\"journal\":{\"name\":\"Diseases (Basel, Switzerland)\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.9000,\"publicationDate\":\"2024-09-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11430975/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Diseases (Basel, Switzerland)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3390/diseases12090225\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICINE, RESEARCH & EXPERIMENTAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Diseases (Basel, Switzerland)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3390/diseases12090225","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICINE, RESEARCH & EXPERIMENTAL","Score":null,"Total":0}
Whole Exome Sequencing of Adult Indians with Apparently Acquired Aplastic Anaemia: Initial Experience at Tertiary Care Hospital.
Aplastic anaemia (AA) is a rare hypocellular bone marrow disease with a large number of mutations in the telomerase reverse transcriptase gene (TERT), leading to bone marrow failure. We used our benchmarked whole exome sequencing (WES) pipeline to identify variants in adult Indian subjects with apparently acquired AA. For 36 affected individuals, we sequenced coding regions to a mean coverage of 100× and a sufficient depth was achieved. Downstream validation and filtering to call mutations in patients treated with Cyclosporin A (CsA) identified variants associated with AA. We report four mutations across the genes associated with the AA, TERT and CYP3A5, in addition to other genes, viz., IFNG, PIGA, NBS/NBN, and MPL. We demonstrate the application of WES to discover the variants associated with CsA responders and non-responders in an Indian cohort.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
