{"id":1473,"date":"2023-11-20T14:39:55","date_gmt":"2023-11-20T14:39:55","guid":{"rendered":"https:\/\/sites.rutgers.edu\/precision-medicine\/?p=1473"},"modified":"2023-12-22T05:15:49","modified_gmt":"2023-12-22T05:15:49","slug":"functional-mutation-splice-distribution-and-divergence-analysis-of-impactful-genes","status":"publish","type":"post","link":"https:\/\/sites.rutgers.edu\/precision-medicine\/functional-mutation-splice-distribution-and-divergence-analysis-of-impactful-genes\/","title":{"rendered":"Functional mutation, splice, distribution, and divergence analysis of impactful genes &#8230;"},"content":{"rendered":"<p>Our latest article published in Nature Scientific Reports i.e.,<\/p>\n<p><strong>Functional mutation, splice, distribution, and divergence analysis of impactful genes associated with heart failure and other cardiovascular diseases.<\/strong><\/p>\n<p>Cardiovascular disease (CVD) is caused by a multitude of complex and largely heritable conditions. Identifying key genes and understanding their susceptibility to CVD in the human genome can assist in early diagnosis and personalized treatment of the relevant patients. Heart failure (HF) is among those CVD phenotypes that has a high rate of mortality. In this study, we investigated genes primarily associated with HF and other CVDs. Achieving the goals of this study, we built a cohort of thirty-five consented patients, and sequenced their serum-based samples. We have generated and processed whole genome sequence (WGS) data, and performed functional mutation, splice, variant distribution, and divergence analysis to understand the relationships between each mutation type and its impact. Our variant and prevalence analysis found <em>FLNA, CST3, LGALS3<\/em>, and <em>HBA1<\/em> linked to many enrichment pathways. Functional mutation analysis uncovered <em>ACE, MME, LGALS3, NR3C2, PIK3C2A, CALD1, TEK,<\/em> and <em>TRPV1<\/em> to be notable and potentially significant genes. We discovered intron, 5\u02b9 Flank, 3\u02b9 UTR, and 3\u02b9 Flank mutations to be the most common among HF and other CVD genes. Missense mutations were less common among HF and other CVD genes but had more of a functional impact. We reported <em>HBA1, FADD, NPPC, ADRB2, ADBR1, MYH6,<\/em> and <em>PLN<\/em> to be consequential based on our divergence analysis.<\/p>\n<p><strong>Publication:<\/strong><\/p>\n<p>\u2013 Mhatre, I., Abdelhalim H, Degroat, W., Ashok, S., Liang, B., &amp; <strong>Ahmed, Z.*<\/strong> (2023). <strong><a href=\"https:\/\/www.nature.com\/articles\/s41598-023-44127-1?utm_source=rct_congratemailt&amp;utm_medium=email&amp;utm_campaign=oa_20231005&amp;utm_content=10.1038\/s41598-023-44127-1\" target=\"_blank\" rel=\"noopener\">Functional mutation, splice, distribution, and divergence analysis of impactful genes associated with heart failure and other cardiovascular diseases<\/a>.<\/strong> Scientific Reports. 13(1), 16769. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/37798313\/\" target=\"_blank\" rel=\"noopener\">PMID: 37798313<\/a>. (Nature).<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Our latest article published in Nature Scientific Reports i.e., Functional mutation, splice, distribution, and divergence analysis of impactful genes associated with heart failure and other cardiovascular diseases. Cardiovascular disease (CVD) &hellip; <a href=\"https:\/\/sites.rutgers.edu\/precision-medicine\/functional-mutation-splice-distribution-and-divergence-analysis-of-impactful-genes\/\" class=\"\">Read More<\/a><\/p>\n","protected":false},"author":1800,"featured_media":1474,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[24,15,17],"tags":[],"class_list":["post-1473","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-cvd","category-precision-medicine","category-publication"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.5 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Functional mutation, splice, distribution, and divergence analysis of impactful genes ... - Precision Medicine<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/sites.rutgers.edu\/precision-medicine\/functional-mutation-splice-distribution-and-divergence-analysis-of-impactful-genes\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Functional mutation, splice, distribution, and divergence analysis of impactful genes ... - Precision Medicine\" \/>\n<meta property=\"og:description\" content=\"Our latest article published in Nature Scientific Reports i.e., Functional mutation, splice, distribution, and divergence analysis of impactful genes associated with heart failure and other cardiovascular diseases. Cardiovascular disease (CVD) &hellip; Read More\" \/>\n<meta property=\"og:url\" content=\"https:\/\/sites.rutgers.edu\/precision-medicine\/functional-mutation-splice-distribution-and-divergence-analysis-of-impactful-genes\/\" \/>\n<meta property=\"og:site_name\" content=\"Precision Medicine\" \/>\n<meta property=\"article:published_time\" content=\"2023-11-20T14:39:55+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2023-12-22T05:15:49+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/sites.rutgers.edu\/precision-medicine\/wp-content\/uploads\/sites\/701\/2023\/10\/SR_Nature_1706.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1706\" \/>\n\t<meta property=\"og:image:height\" content=\"500\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Zeeshan Ahmed\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"Zeeshan Ahmed\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\/\/sites.rutgers.edu\/precision-medicine\/functional-mutation-splice-distribution-and-divergence-analysis-of-impactful-genes\/\",\"url\":\"https:\/\/sites.rutgers.edu\/precision-medicine\/functional-mutation-splice-distribution-and-divergence-analysis-of-impactful-genes\/\",\"name\":\"Functional mutation, splice, distribution, and divergence analysis of impactful genes ... - 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