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{"id":7741,"date":"2022-03-25T16:41:19","date_gmt":"2022-03-25T20:41:19","guid":{"rendered":"https:\/\/ncbiinsights.ncbi.nlm.nih.gov\/?p=7741"},"modified":"2022-03-25T16:41:19","modified_gmt":"2022-03-25T20:41:19","slug":"mgv-acmg2022","status":"publish","type":"post","link":"https:\/\/ncbiinsights.ncbi.nlm.nih.gov\/2022\/03\/25\/mgv-acmg2022\/","title":{"rendered":"Using NCBI resources to research, detect, and treat genetic phenotypes"},"content":{"rendered":"<div class=\"p-pdf_iframe__page\" aria-label=\"Page 1\" data-page-number=\"1\">\n<h3>Clinical Genetics Information at Your Fingertips<\/h3>\n<p><span data-contrast=\"auto\">NCBI offers a portfolio of medical genetics resources to help you research, diagnose, and treat diseases and conditions. You can easily access our data and tools through the <\/span><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/variation\/?utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=medical-genetics&utm_content=20220323link1\"><span data-contrast=\"none\">Medical Genetics and Human Variation page<\/span><\/a> of the <span data-contrast=\"none\">NCBI website<\/span><span data-contrast=\"auto\">. We also encourage you to join our community of thousands of submitters and share your germline and\/or somatic data to advance discovery and optimize clinical care.<\/span><span data-ccp-props=\"{"134233117":true,"134233118":true,"201341983":0,"335559739":160,"335559740":240}\">\u00a0<\/span><\/p>\n<p><span data-contrast=\"auto\">How and why should you use our resources? Consider the example below.<\/span><span data-ccp-props=\"{"134233117":true,"134233118":true,"201341983":0,"335559739":160,"335559740":240}\">\u00a0<\/span><\/p>\n<p><span data-contrast=\"auto\">Your patient is a 40-year-old mother of two presenting with <\/span><span data-contrast=\"auto\">changes in bathroom habits, bleeding, and belly pain. She has a medical history of colonic polyps. Her family history reveals that her maternal grandmother, mother and uncle had several forms of cancers including colon, breast, and endometrium.<\/span><span data-ccp-props=\"{"134233117":true,"134233118":true,"201341983":0,"335559739":160,"335559740":240}\">\u00a0<\/span><\/p>\n<p><!--more--><span data-contrast=\"auto\">You suspect <\/span><b><span data-contrast=\"auto\">Lynch Syndrome <\/span><\/b><span data-contrast=\"auto\">a<\/span><span data-contrast=\"auto\">nd use NCBI resources to learn more. The following are relevant NCBI resources with example records and search results.<\/span><span data-ccp-props=\"{"134233117":true,"134233118":true,"201341983":0,"335559739":160,"335559740":240}\">\u00a0<\/span><\/p>\n<div class=\"wptb-table-container wptb-table-7926\"><div class=\"wptb-table-container-matrix\" id=\"wptb-table-id-7926\" data-wptb-version=\"2.0.2\" data-wptb-pro-status=\"false\"><table class=\"wptb-preview-table wptb-element-main-table_setting-7926\" data-reconstraction=\"1\" style=\"border: 1px solid rgb(209, 209, 209);\" data-wptb-table-tds-sum-max-width=\"263\" data-wptb-cells-width-auto-count=\"2\" data-wptb-extra-styles=\"LyogRW50ZXIgeW91ciBjdXN0b20gQ1NTIHJ1bGVzIGhlcmUgKi8=\" role=\"table\" data-wptb-header-background-color=\"#00000000\" data-wptb-even-row-background-color=\"#00000000\" data-wptb-odd-row-background-color=\"#00000000\" data-disable-theme-styles=\"1\" data-table-columns=\"2\" data-wptb-responsive-directives=\"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\" data-wptb-adaptive-table=\"0\"><tbody><tr class=\"wptb-row\" style=\"background-color: rgba(0, 0, 0, 0);\"><td class=\"wptb-cell\" data-y-index=\"0\" data-x-index=\"0\" style=\"border: 1px solid rgb(209, 209, 209);\" data-wptb-css-td-auto-width=\"true\"><div class=\"wptb-image-container wptb-ph-element wptb-element-image-3\" data-wptb-image-alignment=\"center\"><div class=\"wptb-image-wrapper\"> <a style=\"display: block; width: 75%;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/?utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=MedGen&utm_content=20220323link2\"> <img data-recalc-dims=\"1\" loading=\"lazy\" decoding=\"async\" class=\"wptb-image-element-target\" height=\"46\" width=\"200\" src=\"https:\/\/i0.wp.com\/ncbiinsights.ncbi.nlm.nih.gov\/wp-content\/uploads\/2022\/03\/medgen.png?resize=200%2C46\" style=\"width: 100%;\"> <\/a> <\/div><\/div><\/td><td class=\"wptb-cell\" data-y-index=\"0\" data-x-index=\"1\" style=\"border: 1px solid rgb(209, 209, 209);\" data-wptb-css-td-auto-width=\"true\"><div class=\"wptb-text-container wptb-ph-element wptb-element-text-2\" style=\"color: rgb(74, 85, 104); font-size: 16px;\"><div class=\"\" style=\"position: relative;\"><p>Learn more about <a data-mce-href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen?term=%28%22clinical%22%5BFilter%5D%29+AND+Lynch+syndrome&utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=lynch-syndrome&utm_content=20220323link3%20\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen?term=%28%22clinical%22%5BFilter%5D%29+AND+Lynch+syndrome&utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=lynch-syndrome&utm_content=20220323link3%20\" style=\"color: #4a90e2;\">Lynch Syndrome<\/a>, including disease characteristics displaying from authoritative sources like GeneReviews, clinical features, professional guidelines from medical and professional societies. There are also links to research articles in <a data-mce-href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=lynch+syndrome&sort=date&utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=PubMed&utm_content=20220323link4\" href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=lynch+syndrome&sort=date&utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=PubMed&utm_content=20220323link4\" style=\"color: #4a90e2;\">Pubmed<\/a> and links to <a data-mce-href=\"https:\/\/clinicaltrials.gov\/search?cond=Lynch+syndrome&utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=Clinical-Trials&utm_content=20220323link5\" href=\"https:\/\/clinicaltrials.gov\/search?cond=Lynch+syndrome&utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=Clinical-Trials&utm_content=20220323link5\" style=\"color: #4a90e2;\">ClinicalTrials.gov<\/a>. You can search by clinical features to help you build a differential diagnosis and you will also find therapeutic guidelines based on phenotype for drugs used in treatment available from the <a data-mce-href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK61999\/?utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=MGS&utm_content=20220323link6\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK61999\/?utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=MGS&utm_content=20220323link6\" style=\"color: #4a90e2;\">Medical Genetics Summaries (MGS)<\/a> in drug response pages. <\/p><\/div><\/div><\/td><\/tr><tr class=\"wptb-row\" style=\"background-color: rgba(0, 0, 0, 0);\"><td class=\"wptb-cell\" style=\"border: 1px solid rgb(209, 209, 209);\" data-x-index=\"0\" data-y-index=\"1\" data-wptb-css-td-auto-width=\"true\"><div class=\"wptb-image-container wptb-ph-element wptb-element-image-4\" data-wptb-image-alignment=\"center\"><div class=\"wptb-image-wrapper\"> <a style=\"display: block; width: 75%;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1116\/?utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=Gene-Reviews&utm_content=20220323link7\" class=\"\"> <img data-recalc-dims=\"1\" loading=\"lazy\" decoding=\"async\" class=\"wptb-image-element-target\" height=\"135\" width=\"588\" src=\"https:\/\/i0.wp.com\/ncbiinsights.ncbi.nlm.nih.gov\/wp-content\/uploads\/2022\/03\/GeneReviews.png?resize=588%2C135\" style=\"width: 100%;\"> <\/a> <\/div><\/div><\/td><td class=\"wptb-cell\" style=\"border: 1px solid rgb(209, 209, 209);\" data-x-index=\"1\" data-y-index=\"1\" data-wptb-css-td-auto-width=\"true\"><div class=\"wptb-text-container wptb-ph-element wptb-element-text-4\" style=\"color: rgb(74, 85, 104); font-size: 16px;\"><div class=\"\" style=\"position: relative;\"><p>Read peer-reviewed and expert-researched articles about <a data-mce-href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1211\/?utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=GeneReviews-Lynch-Syndrome&utm_content=20220323link8\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1211\/?utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=GeneReviews-Lynch-Syndrome&utm_content=20220323link8\" data-mce-selected=\"inline-boundary\" style=\"color: rgb(74, 144, 226);\">Lynch Syndrome<\/a>. <\/p><\/div><\/div><\/td><\/tr><tr class=\"wptb-row\" style=\"background-color: rgba(0, 0, 0, 0);\"><td class=\"wptb-cell\" style=\"border: 1px solid rgb(209, 209, 209);\" data-x-index=\"0\" data-y-index=\"2\" data-wptb-css-td-auto-width=\"true\"><div class=\"wptb-image-container wptb-ph-element wptb-element-image-5\" data-wptb-image-alignment=\"center\"><div class=\"wptb-image-wrapper\"> <a style=\"display: block; width: 75%;\" class=\"\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/gtr\/?utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=GTR&utm_content=20220323link9\"> <img data-recalc-dims=\"1\" loading=\"lazy\" decoding=\"async\" class=\"wptb-image-element-target\" height=\"46\" width=\"200\" src=\"https:\/\/i0.wp.com\/ncbiinsights.ncbi.nlm.nih.gov\/wp-content\/uploads\/2022\/03\/GTR.png?resize=200%2C46\" style=\"width: 100%;\"> <\/a> <\/div><\/div><\/td><td class=\"wptb-cell\" style=\"border: 1px solid rgb(209, 209, 209);\" data-x-index=\"1\" data-y-index=\"2\" data-wptb-css-td-auto-width=\"true\"><div class=\"wptb-text-container wptb-ph-element wptb-element-text-6\" style=\"color: rgb(74, 85, 104); font-size: 16px;\"><div class=\"\" style=\"position: relative;\"><p>Find a single gene or multi-gene panel to help diagnose <a data-mce-href=\"https:\/\/www.ncbi.nlm.nih.gov\/gtr\/all\/tests\/?term=C4552100&utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=GTR-Lynch-Syndrome&utm_content=20220323link10\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/gtr\/all\/tests\/?term=C4552100&utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=GTR-Lynch-Syndrome&utm_content=20220323link10\" style=\"color: rgb(74, 144, 226);\">Lynch Syndrome<\/a>. You will also find tests to help guide therapy, evaluate risk and inform prognosis. When available, you will also find research tests for the condition.<\/p><\/div><\/div><\/td><\/tr><tr class=\"wptb-row\" style=\"background-color: rgba(0, 0, 0, 0);\"><td class=\"wptb-cell\" style=\"border: 1px solid rgb(209, 209, 209);\" data-x-index=\"0\" data-y-index=\"3\" data-wptb-css-td-auto-width=\"true\"><div class=\"wptb-text-container wptb-ph-element wptb-element-text-7\" style=\"color: rgb(74, 85, 104); font-size: 15px;\"><div class=\"\" style=\"position: relative;\"><p><\/p><\/div><\/div><div class=\"wptb-image-container wptb-ph-element wptb-element-image-6\" data-wptb-image-alignment=\"center\"><div class=\"wptb-image-wrapper\"> <a style=\"display: block; width: 75%;\" class=\"\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=ClinVar&utm_content=20220323link11\"> <img data-recalc-dims=\"1\" loading=\"lazy\" decoding=\"async\" class=\"wptb-image-element-target\" height=\"45\" width=\"200\" src=\"https:\/\/i0.wp.com\/ncbiinsights.ncbi.nlm.nih.gov\/wp-content\/uploads\/2022\/03\/clinvar.png?resize=200%2C45\" style=\"width: 100%;\"> <\/a> <\/div><\/div><\/td><td class=\"wptb-cell\" style=\"border: 1px solid rgb(209, 209, 209);\" data-x-index=\"1\" data-y-index=\"3\" data-wptb-css-td-auto-width=\"true\"><div class=\"wptb-text-container wptb-ph-element wptb-element-text-8\" style=\"color: rgb(74, 85, 104); font-size: 16px;\"><div class=\"\" style=\"position: relative;\"><p>Learn about genetic variants associated with <a data-mce-href=\"https:\/\/www.ncbi.nlm.nih.gov\/clinvar?LinkName=medgen_clinvar&from_uid=1633554&utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=ClinVar-Lynch-Syndrome&utm_content=20220323link12\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/clinvar?LinkName=medgen_clinvar&from_uid=1633554&utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=ClinVar-Lynch-Syndrome&utm_content=20220323link12\" style=\"color: rgb(74, 144, 226);\">Lynch Syndrome<\/a>. <\/p><\/div><\/div><\/td><\/tr><tr class=\"wptb-row\" style=\"background-color: rgba(0, 0, 0, 0);\"><td class=\"wptb-cell\" style=\"border: 1px solid rgb(209, 209, 209);\" data-x-index=\"0\" data-y-index=\"4\" data-wptb-css-td-auto-width=\"true\"><div class=\"wptb-image-container wptb-ph-element wptb-element-image-7\" data-wptb-image-alignment=\"center\"><div class=\"wptb-image-wrapper\"> <a style=\"display: block; width: 75%;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/snp\/docs\/gsr\/alfa\/?utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=ALFA&utm_content=20220323link13\" class=\"\"> <img data-recalc-dims=\"1\" loading=\"lazy\" decoding=\"async\" class=\"wptb-image-element-target\" height=\"46\" width=\"200\" src=\"https:\/\/i0.wp.com\/ncbiinsights.ncbi.nlm.nih.gov\/wp-content\/uploads\/2022\/03\/ALFA.png?resize=200%2C46\" style=\"width: 100%;\"> <\/a> <\/div><\/div><\/td><td class=\"wptb-cell\" style=\"border: 1px solid rgb(209, 209, 209);\" data-x-index=\"1\" data-y-index=\"4\" data-wptb-css-td-auto-width=\"true\"><div class=\"wptb-text-container wptb-ph-element wptb-element-text-10\" style=\"color: rgb(74, 85, 104); font-size: 16px;\"><div class=\"\" style=\"position: relative;\"><p>Search for the allele frequency of alleles related to <a data-mce-href=\"https:\/\/www.ncbi.nlm.nih.gov\/snp\/?term=%28MLH1%5BGene+Name%5D+OR+MSH2%5BGene+Name%5D+OR+MSH6%5BGene+Name%5D+OR+PMS2%5BGene+Name%5D+OR+EPCAM%5BGene+Name%5D%29+AND+%28likely+pathogenic%5BClinical_Significance%5D+p+OR+likely_pathogenic%5BClinical_Significance%5D%29+AND+by+alfa%5BValidation%5D&utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=ALFA-Lynch-Syndrome&utm_content=20220323link14\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/snp\/?term=%28MLH1%5BGene+Name%5D+OR+MSH2%5BGene+Name%5D+OR+MSH6%5BGene+Name%5D+OR+PMS2%5BGene+Name%5D+OR+EPCAM%5BGene+Name%5D%29+AND+%28likely+pathogenic%5BClinical_Significance%5D+p+OR+likely_pathogenic%5BClinical_Significance%5D%29+AND+by+alfa%5BValidation%5D&utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=ALFA-Lynch-Syndrome&utm_content=20220323link14\" style=\"color: rgb(74, 144, 226);\">Lynch Syndrome<\/a> based on human populations. <\/p><p><\/p><\/div><\/div><\/td><\/tr><tr class=\"wptb-row\" style=\"background-color: rgba(0, 0, 0, 0);\"><td class=\"wptb-cell\" style=\"border: 1px solid rgb(209, 209, 209);\" data-x-index=\"0\" data-y-index=\"5\" data-wptb-css-td-auto-width=\"true\"><div class=\"wptb-image-container wptb-ph-element wptb-element-image-8\" data-wptb-image-alignment=\"center\"><div class=\"wptb-image-wrapper\"> <a style=\"display: block; width: 75%;\" class=\"\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/snp\/?utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=dbSNP&utm_content=20220323link15\"> <img data-recalc-dims=\"1\" loading=\"lazy\" decoding=\"async\" class=\"wptb-image-element-target\" height=\"46\" width=\"200\" src=\"https:\/\/i0.wp.com\/ncbiinsights.ncbi.nlm.nih.gov\/wp-content\/uploads\/2022\/03\/dbSnP.png?resize=200%2C46\" style=\"width: 100%;\"> <\/a> <\/div><\/div><div class=\"wptb-text-container wptb-ph-element wptb-element-text-11\" style=\"color: rgb(74, 85, 104); font-size: 15px;\"><div class=\"\" style=\"position: relative;\"><p><\/p><\/div><\/div><\/td><td class=\"wptb-cell\" style=\"border: 1px solid rgb(209, 209, 209);\" data-x-index=\"1\" data-y-index=\"5\" data-wptb-css-td-auto-width=\"true\"><div class=\"wptb-text-container wptb-ph-element wptb-element-text-12\" style=\"color: rgb(74, 85, 104); font-size: 16px;\"><div class=\"\" style=\"position: relative;\"><p>Access information on common and rare genetic variants for a gene associated with <a data-mce-href=\"https:\/\/www.ncbi.nlm.nih.gov\/snp\/?term=%28MLH1%5BGene+Name%5D+OR+MSH2%5BGene+Name%5D+OR+MSH6%5BGene+Name%5D+OR+PMS2%5BGene+Name%5D+OR+EPCAM%5BGene+Name%5D%29+AND+%28likely+pathogenic%5BClinical_Significance%5D+p+OR+likely_pathogenic%5BClinical_Significance%5D%29&utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=dbSNP-Lynch-Syndrome&utm_content=20220323link16\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/snp\/?term=%28MLH1%5BGene+Name%5D+OR+MSH2%5BGene+Name%5D+OR+MSH6%5BGene+Name%5D+OR+PMS2%5BGene+Name%5D+OR+EPCAM%5BGene+Name%5D%29+AND+%28likely+pathogenic%5BClinical_Significance%5D+p+OR+likely_pathogenic%5BClinical_Significance%5D%29&utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=dbSNP-Lynch-Syndrome&utm_content=20220323link16\" style=\"color: rgb(74, 144, 226);\">Lynch Syndrome<\/a>. <\/p><\/div><\/div><\/td><\/tr><tr class=\"wptb-row\" style=\"background-color: rgba(0, 0, 0, 0);\"><td class=\"wptb-cell\" style=\"border: 1px solid rgb(209, 209, 209);\" data-x-index=\"0\" data-y-index=\"6\" data-wptb-css-td-auto-width=\"true\"><div class=\"wptb-text-container wptb-ph-element wptb-element-text-13\" style=\"color: rgb(74, 85, 104); font-size: 15px;\"><div class=\"\" style=\"position: relative;\"><p><\/p><\/div><\/div><div class=\"wptb-image-container wptb-ph-element wptb-element-image-9\" data-wptb-image-alignment=\"center\"><div class=\"wptb-image-wrapper\"> <a style=\"display: block; width: 75%;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/gap\/?utm_source=blog&utm_medium=referral&utm_campaign=ACMG-Case&utm_term=dbGaP&utm_content=20220323link17\"> <img data-recalc-dims=\"1\" loading=\"lazy\" decoding=\"async\" class=\"wptb-image-element-target\" height=\"45\" width=\"200\" src=\"https:\/\/i0.wp.com\/ncbiinsights.ncbi.nlm.nih.gov\/wp-content\/uploads\/2022\/03\/dbGaP.png?resize=200%2C45\" style=\"width: 100%;\"> <\/a> <\/div><\/div><\/td><td class=\"wptb-cell\" style=\"border: 1px solid rgb(209, 209, 209);\" data-x-index=\"1\" data-y-index=\"6\" data-wptb-css-td-auto-width=\"true\"><div class=\"wptb-text-container wptb-ph-element wptb-element-text-14\" style=\"color: rgb(74, 85, 104); font-size: 16px;\"><div class=\"\" style=\"position: relative;\"><p>Find human clinical study data and molecular characterizations for <a data-mce-href=\"https:\/\/www.ncbi.nlm.nih.gov\/projects\/gap\/cgi-bin\/study.cgi?study_id=phs001407.v1.p1\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/projects\/gap\/cgi-bin\/study.cgi?study_id=phs001407.v1.p1\" style=\"color: rgb(74, 144, 226);\">Lynch Syndrome and a related disorder<\/a>. <\/p><\/div><\/div><\/td><\/tr><\/tbody><\/table><\/div><\/div>\n\n<p><span data-contrast=\"auto\">This example illustrates how researchers, clinicians, health professionals and patients can benefit from the availability of NCBI data associated with a particular disease or condition and its molecular cause.<\/span><span data-ccp-props=\"{"134233117":true,"134233118":true,"201341983":0,"335559739":160,"335559740":240}\">\u00a0<\/span><\/p>\n<p><span data-contrast=\"auto\">Want to view the full case study? Stay tuned for a detailed video!<\/span><span data-ccp-props=\"{"134233117":true,"134233118":true,"201341983":0,"335559739":160,"335559740":240}\">\u00a0<\/span><\/p>\n<\/div>\n<div class=\"p-pdf_iframe__page\" aria-label=\"Page 2\" data-page-number=\"2\">\n<div class=\"annotationLayer\"><\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>Clinical Genetics Information at Your Fingertips NCBI offers a portfolio of medical genetics resources to help you research, diagnose, and treat diseases and conditions. You can easily access our data and tools through the Medical Genetics and Human Variation page of the NCBI website. We also encourage you to join our community of thousands of … <a href=\"https:\/\/ncbiinsights.ncbi.nlm.nih.gov\/2022\/03\/25\/mgv-acmg2022\/\" class=\"more-link\">Continue reading <span class=\"screen-reader-text\">Using NCBI resources to research, detect, and treat genetic phenotypes<\/span> <span class=\"meta-nav\">→<\/span><\/a><\/p>\n","protected":false},"author":42204617,"featured_media":7921,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_coblocks_attr":"","_coblocks_dimensions":"","_coblocks_responsive_height":"","_coblocks_accordion_ie_support":"","jetpack_post_was_ever_published":false,"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_publicize_message":"How to Use NCBI Resources to Research, Detect and Treat Diseases","jetpack_publicize_feature_enabled":true,"jetpack_social_post_already_shared":true,"jetpack_social_options":{"image_generator_settings":{"template":"highway","enabled":false},"version":2}},"categories":[2248],"tags":[693060755,21230280,108204782,14750092,693060677,235681046,36977864,31926433,651059074,5531713,10192294],"table_tags":[],"class_list":["post-7741","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-whats-new","tag-acmg2022","tag-clinicaltrials-gov","tag-clinvar","tag-dbgap","tag-dbgap-allele-frequency-aggregator-alfa","tag-genereviews","tag-genetic-testing-registry","tag-medgen","tag-medical-genetic-summaries","tag-medical-genetics","tag-dbsnp"],"jetpack_publicize_connections":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v24.6 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Using NCBI resources to research, detect, and treat genetic phenotypes - NCBI Insights<\/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:\/\/ncbiinsights.ncbi.nlm.nih.gov\/2022\/03\/25\/mgv-acmg2022\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Using NCBI resources to research, detect, and treat genetic phenotypes - NCBI Insights\" \/>\n<meta property=\"og:description\" content=\"Clinical Genetics Information at Your Fingertips NCBI offers a portfolio of medical genetics resources to help you research, diagnose, and treat diseases and conditions. 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