Genetics in Medicine最新文献

{"title":"Points to consider for providing expert witness testimony for the specialty of medical genetics: A statement of the American College of Medical Genetics and Genomics (ACMG)","authors":"Laurie H. Seaver , Perry Chan , Lynn D. Fleisher , Samuel J. Huang , Susan D. Klugman , Dena R. Matalon , ACMG Ethical, Legal, and Social Issues Committee","doi":"10.1016/j.gim.2024.101229","DOIUrl":"10.1016/j.gim.2024.101229","url":null,"abstract":"","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"26 10","pages":"Article 101229"},"PeriodicalIF":6.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142139952","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Response to Wei et al","authors":"","doi":"10.1016/j.gim.2024.101209","DOIUrl":"10.1016/j.gim.2024.101209","url":null,"abstract":"","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"26 10","pages":"Article 101209"},"PeriodicalIF":6.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141554699","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy","authors":"Pleuntje J. van der Sluijs ,&nbsp;Sébastien Moutton ,&nbsp;Alexander J.M. Dingemans ,&nbsp;Denisa Weis ,&nbsp;Michael A. Levy ,&nbsp;Kym M. Boycott ,&nbsp;Claudia Arberas ,&nbsp;Margherita Baldassarri ,&nbsp;Claire Beneteau ,&nbsp;Alfredo Brusco ,&nbsp;Charles Coutton ,&nbsp;Tabib Dabir ,&nbsp;Maria L. Dentici ,&nbsp;Koenraad Devriendt ,&nbsp;Laurence Faivre ,&nbsp;Mieke M. van Haelst ,&nbsp;Khadije Jizi ,&nbsp;Marlies J. Kempers ,&nbsp;Jennifer Kerkhof ,&nbsp;Mira Kharbanda ,&nbsp;Gijs W.E. Santen","doi":"10.1016/j.gim.2024.101283","DOIUrl":"10.1016/j.gim.2024.101283","url":null,"abstract":"<div><h3>Purpose</h3><div><em>ARID1A/ARID1B</em> haploinsufficiency leads to Coffin-Siris syndrome, duplications of <em>ARID1A</em> lead to a distinct clinical syndrome, whilst <em>ARID1B</em> duplications have not yet been linked to a phenotype.</div></div><div><h3>Methods</h3><div>We collected patients with duplications encompassing <em>ARID1A</em> and <em>ARID1B</em> duplications.</div></div><div><h3>Results</h3><div>16 <em>ARID1A</em> and 13 <em>ARID1B</em> duplication cases were included with duplication sizes ranging from 0.1 to 1.2 Mb (1-44 genes) for <em>ARID1A</em> and 0.9 to 10.3 Mb (2-101 genes) for <em>ARID1B</em>. Both groups shared features, with <em>ARID1A</em> patients having more severe intellectual disability, growth delay, and congenital anomalies. DNA methylation analysis showed that <em>ARID1A</em> patients had a specific methylation pattern in blood, which differed from controls and from patients with <em>ARID1A</em> or <em>ARID1B</em> loss-of-function variants. <em>ARID1B</em> patients appeared to have a distinct methylation pattern, similar to <em>ARID1A</em> duplication patients, but further research is needed to validate these results. Five cases with duplications including <em>ARID1A</em> or <em>ARID1B</em> initially annotated as duplications of uncertain significance were evaluated using PhenoScore and DNA methylation reanalysis, resulting in the reclassification of 2 <em>ARID1A</em> and 2 <em>ARID1B</em> duplications as pathogenic.</div></div><div><h3>Conclusion</h3><div>Our findings reveal that <em>ARID1B</em> duplications manifest a clinical phenotype, and <em>ARID1A</em> duplications have a distinct episignature that overlaps with that of <em>ARID1B</em> duplications, providing further evidence for a distinct and emerging BAFopathy caused by whole-gene duplication rather than haploinsufficiency.</div></div>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"27 1","pages":"Article 101283"},"PeriodicalIF":6.6,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142361420","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Estimating the sensitivity of genomic newborn screening for treatable inherited metabolic disorders","authors":"Sarah L. Bick ,&nbsp;Aparna Nathan ,&nbsp;Hannah Park ,&nbsp;Robert C. Green ,&nbsp;Monica H. Wojcik ,&nbsp;Nina B. Gold","doi":"10.1016/j.gim.2024.101284","DOIUrl":"10.1016/j.gim.2024.101284","url":null,"abstract":"<div><h3>Purpose</h3><div>Over 30 research groups and companies are exploring newborn screening using genomic sequencing (NBSeq), but the sensitivity of this approach is not well understood.</div></div><div><h3>Methods</h3><div>We identified individuals with treatable inherited metabolic disorders (IMDs) and ascertained the proportion whose DNA analysis revealed explanatory deleterious variants (EDVs). We examined variables associated with EDV detection and estimated the sensitivity of DNA-first NBSeq. We further predicted the annual rate of true-positive and false-negative NBSeq results in the United States for several conditions on the Recommended Uniform Screening Panel.</div></div><div><h3>Results</h3><div>We identified 635 individuals with 80 unique IMDs. In univariate analyses, Black race (OR = 0.37, 95% CI: 0.16-0.89, <em>P</em> = .02) and public insurance (OR = 0.60, 95% CI: 0.39-0.91, <em>P</em> = .02) were less likely to be associated with finding EDVs. Had all individuals been screened with NBSeq, the sensitivity would have been 80.3%. We estimated that between 0 and 649.9 cases of Recommended Uniform Screening Panel IMDs would be missed annually by NBSeq in the United States.</div></div><div><h3>Conclusion</h3><div>The overall sensitivity of NBSeq for treatable IMDs is estimated at 80.3%. That sensitivity will likely be lower for Black infants and those who are on public insurance.</div></div>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"27 1","pages":"Article 101284"},"PeriodicalIF":6.6,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142361419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort","authors":"Hosneara Akter ,&nbsp;Md. Atikur Rahaman ,&nbsp;Tamannyat Binte Eshaque ,&nbsp;Nesrin Mohamed ,&nbsp;Amirul Islam ,&nbsp;Mehzabin Morshed ,&nbsp;Zaha Shahin ,&nbsp;Al Muhaimin ,&nbsp;Arif Md. Foyzullah ,&nbsp;Rabeya Akter Mim ,&nbsp;Farjana Binta Omar ,&nbsp;Md. Nahid Hasan ,&nbsp;Dharana Satsangi ,&nbsp;Nahid Ahmed ,&nbsp;Abdullah Al Saba ,&nbsp;Nargis Jahan ,&nbsp;Md. Arif Hossen ,&nbsp;Md.Ashadujjaman Mondol ,&nbsp;Ahammad Sharif Sakib ,&nbsp;Rezwana Kabir ,&nbsp;Mohammed Uddin","doi":"10.1016/j.gim.2024.101282","DOIUrl":"10.1016/j.gim.2024.101282","url":null,"abstract":"<div><h3>Purpose</h3><div>The genetic underpinning of neurodevelopmental disorders (NDDs) in diverse ethnic populations, especially those with high rates of consanguinity, remains largely unexplored. Here, we aim to elucidate genomic insight from 576 well-phenotyped and highly consanguineous (16%) NDD cohort.</div></div><div><h3>Methods</h3><div>We used chromosomal microarray (CMA; N:247), exome sequencing (ES; N:127), combined CMA and ES (N:202), and long-read genome sequencing to identify genetic etiology. Deep clinical multivariate data were coupled with genomic variants for stratification analysis.</div></div><div><h3>Results</h3><div>Genetic diagnosis rates were 17% with CMA, 29.92% with ES, and 37.13% with combined CMA and ES. Notably, children of consanguineous parents showed a significantly higher diagnostic yield (<em>P</em> &lt; .01) compared to those from nonconsanguineous parents. Among the ES-identified pathogenic variants, 36.19% (38/105) were novel, implicating 35 unique genes. Long-read sequencing of seizure participants unresolved by combined test identified expanded <em>FMR1</em> trinucleotide repeats. Additionally, we identified 2 recurrent X-linked variants in the <em>G6PD</em> in 3.65% (12/329) of NDD participants. These variants were absent in large-population control cohorts and cohort comprising neurodevelopmental and neuropsychiatric populations of European descendants, indicating a possible associated risk factor potentially resulting from ancient genetic drift.</div></div><div><h3>Conclusion</h3><div>This study unveils unique clinical and genomic insights from a consanguinity rich Bangladeshi NDD cohort, highlighting a strong association of <em>G6PD</em> with NDD in this population.</div></div>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"27 1","pages":"Article 101282"},"PeriodicalIF":6.6,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142345076","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of double heterozygotes of SLC3A1 and SLC7A9 in the prevalence of cystine stones","authors":"Chen-Han Wilfred Wu ,&nbsp;Ishita Patel ,&nbsp;Katreya Lovrenert ,&nbsp;Brian Eisner ,&nbsp;Naomi Meeks ,&nbsp;Anne Chun-Hui Tsai ,&nbsp;Michelle Baum ,&nbsp;Gerard Berry ,&nbsp;Fredrick R. Schumacher","doi":"10.1016/j.gim.2024.101281","DOIUrl":"10.1016/j.gim.2024.101281","url":null,"abstract":"<div><h3>Purpose</h3><div>Cystine stones, an autosomal recessive disorder caused by cystinuria, result from pathogenic variants of <em>SLC3A1</em> and <em>SLC7A9</em>. Previous publications revealed that clinical prevalence is higher than genetically predicted prevalence. Heterozygotes in either gene are not stone formers. However, double heterozygotes (DH), individuals with 2 heterozygous pathogenic variants in both genes, were never evaluated and may explain the gap between clinical and genetic prevalence.</div></div><div><h3>Methods</h3><div>Because of the rarity of the condition, direct clinical observation is impractical. We perform this population study as a surrogate by identifying the observed DH, deriving the theoretical/expected DH, and testing the null hypothesis (NH) that the observed DH frequency is equal or greater than expected. This NH biologically correlate to that DH are asymptomatic and do not have cystine stone.</div></div><div><h3>Results</h3><div>Using the 1000 Genome Database, we identified 0 DH. We derived the theoretical/expected DH with Hardy-Weinberg Equilibrium and Mendel’s law of independent assortment as 4.94 × 10−s. Population proportion test revealed <em>z</em> = −0.353, and <em>P</em> = .362, the NH cannot be rejected.</div></div><div><h3>Conclusion</h3><div>Statistical testing does not support that DH are symptomatic, ie, DH of <em>SLC3A1</em> and <em>SLC7A9</em> may not present with cystine stone, and other factors responsible for the gap that current genetics knowledge cannot explain.</div></div>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"27 1","pages":"Article 101281"},"PeriodicalIF":6.6,"publicationDate":"2024-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307520","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Group-based medical mistrust in genomic medicine: Associations with patient and provider perceptions of a specialty clinical encounter","authors":"Frank Angelo ,&nbsp;Margaret Waltz ,&nbsp;Haoyang Yan ,&nbsp;Jonathan S. Berg ,&nbsp;Ann Katherine M. Foreman ,&nbsp;Julianne O’Daniel ,&nbsp;Christine Rini","doi":"10.1016/j.gim.2024.101279","DOIUrl":"10.1016/j.gim.2024.101279","url":null,"abstract":"<div><h3>Purpose</h3><div>Investigating associations between group-based medical mistrust (GBMM) and perceptions of patient-provider encounters can identify one mechanism through which GBMM may influence health outcomes and serve as a barrier to equitable health care. This study investigated associations between GBMM reported by caregivers of children with a possible genetic condition and caregivers’ and providers’ perceptions of a specialty care appointment discussing diagnostic plans.</div></div><div><h3>Methods</h3><div>Caregivers (<em>N</em> = 177) completed the GBMM scale and other measures before their child’s initial specialty clinic visit. After the visit, caregivers reported their perceptions of the visit, including patient centeredness and satisfaction with care. Providers (<em>N</em> = 6) reported their perceptions of patient engagement.</div></div><div><h3>Results</h3><div>Multivariable linear regression showed that higher caregiver GBMM was associated with caregivers’ lower satisfaction with care (<em>P</em> &lt; .01) and more negative perceptions of every domain of patient centeredness (<em>P</em> = .001-.04). Multilevel modeling showed that higher caregiver GBMM was associated with more negative provider perceptions of caregivers’ preparedness to participate in care (<em>P</em> = .03), likely treatment compliance (<em>P</em> = .03), and relevance of questions asked during visit (<em>P</em> = .04).</div></div><div><h3>Conclusion</h3><div>Our findings extend evidence for detrimental effects of GBMM on patient satisfaction to caregivers of pediatric patients and offer new evidence for associations with health care providers’ perceptions of caregivers’ engagement with care.</div></div>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"26 12","pages":"Article 101279"},"PeriodicalIF":6.6,"publicationDate":"2024-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of the Master’s in Genomic Medicine framework: A national, multiprofessional program to educate health care professionals in NHS England","authors":"Karl Peter Nightingale ,&nbsp;Michelle Bishop ,&nbsp;Nina Avitabile ,&nbsp;Siobhan Simpson ,&nbsp;Leila Freidoony ,&nbsp;Sharon Buckley ,&nbsp;Katrina Tatton-Brown","doi":"10.1016/j.gim.2024.101277","DOIUrl":"10.1016/j.gim.2024.101277","url":null,"abstract":"<div><h3>Purpose</h3><div>Genomic medicine is revolutionizing health care but requires health care professionals to update their understanding of genomics and its application to clinical practice for successful implementation. To meet this need, Health Education England developed the Master’s in Genomic Medicine, a national multiprofessional program to increase genomic literacy in the National Health Service workforce. This study summarizes an evaluation of the program, which will inform its future development.</div></div><div><h3>Methods</h3><div>Underpinned by Moore’s evaluation framework, a mixed methods approach was used to characterize (1) learner demographics, (2) perceptions of the program, (3) knowledge and/or qualifications achieved, and (4) the outcome(s) for practice in the workplace.</div></div><div><h3>Results</h3><div>Learners were a diverse cohort of health care professionals, including doctors, health care scientists, nurses and midwives. Participant satisfaction was high for all elements of the program, including the curriculum, learning environment(s), and multiprofessional cohort(s), despite the challenges of engaging working professionals in part-time learning. Both learners and their managers reported enhanced genomic practice after completion of their studies.</div></div><div><h3>Conclusion</h3><div>The Master’s in Genomic Medicine program is an effective approach to professional education in genomic medicine. This broad multiprofessional learning complements training aimed at specific groups of health care professionals.</div></div>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"27 1","pages":"Article 101277"},"PeriodicalIF":6.6,"publicationDate":"2024-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency","authors":"Athanasia Stoupa ,&nbsp;Monica Malheiros Franca ,&nbsp;Maha Abdulhadi-Atwan ,&nbsp;Haruki Fujisawa ,&nbsp;Manassawee Korwutthikulrangsri ,&nbsp;Isis Marchand ,&nbsp;Gabrielle Polak ,&nbsp;Jacques Beltrand ,&nbsp;Michel Polak ,&nbsp;Dulanjalee Kariyawasam ,&nbsp;Xiao-Hui Liao ,&nbsp;Chantalle Raimondi ,&nbsp;Connolly Steigerwald ,&nbsp;Nicolas J. Abreu ,&nbsp;Andrew J. Bauer ,&nbsp;Aurore Carré ,&nbsp;Charit Taneja ,&nbsp;Allison Bauman Mekhoubad ,&nbsp;Alexandra M. Dumitrescu","doi":"10.1016/j.gim.2024.101280","DOIUrl":"10.1016/j.gim.2024.101280","url":null,"abstract":"<div><h3>Purpose</h3><div>Defects in the gene encoding selenocysteine insertion sequence binding protein 2, <em>SECISBP2</em>, result in global impaired selenoprotein synthesis manifesting a complex syndrome with characteristic serum thyroid function tests due to impaired thyroid hormone metabolism. Knowledge about this multisystemic defect remains limited.</div></div><div><h3>Methods</h3><div>Genetic and laboratory investigations were performed in affected members from 6 families presenting with short stature and failure to thrive.</div></div><div><h3>Results</h3><div>Four probands presented a complex neurodevelopmental profile, including absent speech, autistic features, and seizures. Pediatric neurological evaluation prompted genetic investigations leading to the identification of <em>SECISBP2</em> variants before knowing the characteristic thyroid tests in 2 cases. Thyroid hormone treatment improved motor development, whereas speech and intellectual impairments persisted. This defect poses great diagnostic and treatment challenges for clinicians, as illustrated by a case that escaped detection for 20 years because <em>SECISBP2</em> was not included in the neurodevelopmental genetic panel, and his complex thyroid status prompted antithyroid treatment instead.</div></div><div><h3>Conclusion</h3><div>This syndrome uncovers the role of selenoproteins in humans. The severe neurodevelopmental disabilities manifested in 4 patients with SECISBP2 deficiency highlight an additional phenotype in this multisystem disorder. Early diagnosis and treatment are required, and long-term evaluation will determine the full spectrum of manifestations and the impact of therapy.</div></div>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"26 12","pages":"Article 101280"},"PeriodicalIF":6.6,"publicationDate":"2024-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Utilization of a SNP microarray to detect uniparental disomy: Implications and outcomes","authors":"Alexandra Arreola,&nbsp;Gloria Haskell,&nbsp;Inder Gadi,&nbsp;Andrea Penton,&nbsp;Stuart Schwartz","doi":"10.1016/j.gim.2024.101275","DOIUrl":"10.1016/j.gim.2024.101275","url":null,"abstract":"<div><h3>Purpose</h3><div>To examine the utility of single-nucleotide polymorphisms (SNP) microarray analysis to detect uniparental disomy (UPD) by utilizing trios and duos (for which only 1 parent is available).</div></div><div><h3>Methods</h3><div>We established Mendelian Inheritance Error (MIE) values associated with either UPD or biparental inheritance in a cohort of 124 patients. In duos, the percentage of proband heterozygous (AB) SNPs contributed from the parent submitted was also used to detect UPD.</div></div><div><h3>Results</h3><div>Examination of 25 trios revealed UPD with a MIE = 0.02 +/− 0.02 and a range of 0.01 to 0.23 for the contributing parent and a MIE = 8.76 +/− 1.68 with a range of 5.96 to 11.14 for the noncontributing parent. Detailed examination of 13 duos (involving 16 chromosomes) showed an AB% = 52.0% +/− 4.85% consistent with biparental origin of the chromosome of interest. In 6 duos (6 chromosomes), the AB% = 97.2% +/− 2.6% and a range of 92.9% to 99.4% were consistent with UPD.</div></div><div><h3>Conclusion</h3><div>Our results demonstrate utility of a SNP microarray to detect UPD. Distinct MIE ranges were observed that defined UPD or biparental inheritance. In duos, the AB% calculation effectively detected UPD. The diagnostic yield for UPD testing is significantly decreased when large regions of homozygosity are not detected by routine microarray analysis, which has implications for UPD test ordering practices.</div></div>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"26 12","pages":"Article 101275"},"PeriodicalIF":6.6,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142284365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}