{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:53:55Z","timestamp":1753890835150,"version":"3.41.2"},"reference-count":36,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2020,6,12]],"date-time":"2020-06-12T00:00:00Z","timestamp":1591920000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"DOI":"10.3389\/fgene.2020.00555","type":"journal-article","created":{"date-parts":[[2020,6,12]],"date-time":"2020-06-12T04:34:52Z","timestamp":1591936492000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Maximal Segmental Score Method for Localizing Recessive Disease Variants Based on Sequence Data"],"prefix":"10.3389","volume":"11","author":[{"given":"Ai-Ru","family":"Hsieh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia Jyun","family":"Sie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chien Ching","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jurg","family":"Ott","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ie-Bin","family":"Lian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cathy S. J.","family":"Fann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2020,6,12]]},"reference":[{"key":"B1","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/S0022-2836(05)80360-2","article-title":"Basic local alignment search tool.","volume":"215","author":"Altschul","year":"1990","journal-title":"J. Mol. Biol."},{"key":"B2","doi-asserted-by":"publisher","first-page":"661","DOI":"10.1016\/j.ajhg.2012.02.026","article-title":"Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.","volume":"90","author":"Asharani","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.12956\/tjpd.2015.115","article-title":"Heterozygous vitamin D receptor gene polymorphism in an osteogenesis imperfecta type IV case.","author":"Ay\u00e7a","year":"2015","journal-title":"Turkish J. Pediatric Disease"},{"key":"B4","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1016\/j.ajhg.2011.07.014","article-title":"Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.","volume":"89","author":"Bernard","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"B5","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1093\/ije\/dys064","article-title":"Cohort Profile: the \u2018children of the 90s\u2019\u2013the index offspring of the avon longitudinal study of parents and children.","volume":"42","author":"Boyd","year":"2013","journal-title":"Int. J. Epidemiol."},{"key":"B6","doi-asserted-by":"publisher","first-page":"516","DOI":"10.1093\/hmg\/ddu471","article-title":"A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children.","volume":"24","author":"Fahiminiya","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"B7","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1093\/ije\/dys066","article-title":"Cohort profile: the avon longitudinal study of parents and children: ALSPAC mothers cohort.","volume":"42","author":"Fraser","year":"2013","journal-title":"Int. J. Epidemiol."},{"key":"B8","doi-asserted-by":"publisher","first-page":"2225","DOI":"10.1126\/science.1069424","article-title":"The structure of haplotype blocks in the human genome.","volume":"296","author":"Gabriel","year":"2002","journal-title":"Science"},{"key":"B9","doi-asserted-by":"publisher","first-page":"959","DOI":"10.1038\/jhg.2016.85","article-title":"HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families.","volume":"61","author":"Imai","year":"2016","journal-title":"J. Hum. Genet."},{"key":"B10","doi-asserted-by":"crossref","DOI":"10.1038\/srep12028","article-title":"Beyond homozygosity mapping: family-control analysis based on hamming distance for prioritizing variants in exome sequencing.","volume":"5","author":"Imai","year":"2015","journal-title":"Sci. Rep."},{"key":"B11","doi-asserted-by":"publisher","first-page":"1796","DOI":"10.1002\/humu.23298","article-title":"HDR-del: a tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing.","volume":"38","author":"Imai-Okazaki","year":"2017","journal-title":"Hum. Mutat."},{"key":"B12","article-title":"Institute of Medicine (US) Committee on Accelerating Rare Diseases Research and Orphan Product Development","author":"Field","year":"2010","journal-title":"Rare Diseases and Orphan Products: Accelerating Research and Development"},{"key":"B13","doi-asserted-by":"publisher","first-page":"2264","DOI":"10.1073\/pnas.87.6.2264","article-title":"Methods for assessing the statistical significance of molecular sequence features by using general scoring schemes.","volume":"87","author":"Karlin","year":"1990","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"B14","doi-asserted-by":"publisher","first-page":"113","DOI":"10.2307\/1427732","article-title":"Limit distributions of maximal segmental score among markov-dependent partial-sums.","volume":"24","author":"Karlin","year":"1992","journal-title":"Adv. Appl. Prob."},{"key":"B15","doi-asserted-by":"crossref","DOI":"10.1186\/s12929-018-0481-x","article-title":"Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis imperfecta.","volume":"25","author":"Kausar","year":"2018","journal-title":"J. Biomed. Sci."},{"key":"B16","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1111\/j.1399-0004.2005.00497.x","article-title":"Population history and its impact on medical genetics in Quebec.","volume":"68","author":"Laberge","year":"2005","journal-title":"Clin. Genet."},{"key":"B17","doi-asserted-by":"publisher","first-page":"860","DOI":"10.1038\/35057062","article-title":"Initial sequencing and analysis of the human genome.","volume":"409","author":"Lander","year":"2001","journal-title":"Nature"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-9-246","article-title":"Using the longest significance run to estimate region-specific p-values in genetic association mapping studies.","volume":"9","author":"Lian","year":"2008","journal-title":"BMC Bioinform."},{"key":"B19","doi-asserted-by":"publisher","first-page":"594","DOI":"10.1002\/gepi.21652","article-title":"Using maximal segmental score in genome-wide association studies.","volume":"36","author":"Lin","year":"2012","journal-title":"Genet. Epidemiol."},{"key":"B20","doi-asserted-by":"crossref","DOI":"10.1186\/s12929-014-0088-9","article-title":"Identifying rare and common disease associated variants in genomic data using Parkinson\u2019s disease as a model.","volume":"21","author":"Lin","year":"2014","journal-title":"J. Biomed. Sci."},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-12-384","article-title":"Multilocus association mapping using generalized ridge logistic regression.","volume":"12","author":"Liu","year":"2011","journal-title":"BMC Bioinform."},{"key":"B22","doi-asserted-by":"crossref","DOI":"10.1038\/nrdp.2017.52","article-title":"Osteogenesis imperfecta.","volume":"3","author":"Marini","year":"2017","journal-title":"Nat. Rev. Dis. Primers"},{"key":"B23","article-title":"Simulation of LD block-structured SNP haplotype data and its use for the analysis of case-control data by supervised learning methods.","volume":"71","author":"Nothnagel","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"B24","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1093\/oxfordjournals.molbev.a004086","article-title":"Gene density and human nucleotide polymorphism.","volume":"19","author":"Payseur","year":"2002","journal-title":"Mol. Biol. Evol."},{"key":"B25","doi-asserted-by":"publisher","first-page":"228","DOI":"10.1007\/s12539-010-0022-0","article-title":"Codon populations in single-stranded whole human genome DNA Are fractal and fine-tuned by the Golden Ratio 1.618.","volume":"2","author":"Perez","year":"2010","journal-title":"Interdiscip. Sci."},{"key":"B26","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1159\/000362412","article-title":"Detection of runs of homozygosity from whole exome sequencing data: state of the art and perspectives for clinical, population and epidemiological studies.","volume":"77","author":"Pippucci","year":"2014","journal-title":"Hum. Hered."},{"key":"B27","doi-asserted-by":"publisher","first-page":"324","DOI":"10.1136\/jmedgenet-2012-101483","article-title":"Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.","volume":"50","author":"Samuels","year":"2013","journal-title":"J. Med. Genet."},{"key":"B28","doi-asserted-by":"crossref","first-page":"W593","DOI":"10.1093\/nar\/gkp369","article-title":"HomozygosityMapper\u2013an interactive approach to homozygosity mapping.","volume":"37","author":"Seelow","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"B29","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1016\/j.ajhg.2012.02.011","article-title":"Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.","volume":"90","author":"Srour","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"B30","doi-asserted-by":"publisher","first-page":"1794","DOI":"10.1016\/j.csda.2008.04.013","article-title":"A fast implementation of a scan statistic for identifying chromosomal patterns of genome wide association studies.","volume":"53","author":"Sun","year":"2009","journal-title":"Comput. Stat. Data Anal."},{"key":"B31","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1111\/j.1469-1809.2009.00543.x","article-title":"A variable-sized sliding-window approach for genetic association studies via principal component analysis.","volume":"73","author":"Tang","year":"2009","journal-title":"Ann. Hum. Genet."},{"key":"B32","doi-asserted-by":"publisher","first-page":"652","DOI":"10.1016\/j.ajhg.2011.10.006","article-title":"Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.","volume":"89","author":"Tetreault","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"B33","doi-asserted-by":"publisher","DOI":"10.1016\/s2213-8587(19)30006-3","article-title":"Spotlight on rare diseases.","volume":"7","year":"2019","journal-title":"Lancet Diabetes Endocrinol."},{"key":"B34","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1038\/gim.2016.166","article-title":"The need for a next-generation public health response to rare diseases.","volume":"19","author":"Valdez","year":"2016","journal-title":"Genet. Med."},{"key":"B35","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1126\/science.1058040","article-title":"The sequence of the human genome.","volume":"291","author":"Venter","year":"2001","journal-title":"Science"},{"key":"B36","doi-asserted-by":"publisher","first-page":"531","DOI":"10.1002\/gepi.20165","article-title":"A sliding-window weighted linkage disequilibrium test.","volume":"30","author":"Yang","year":"2006","journal-title":"Genet. Epidemiol."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2020.00555\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,6,12]],"date-time":"2020-06-12T04:34:56Z","timestamp":1591936496000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2020.00555\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,12]]},"references-count":36,"alternative-id":["10.3389\/fgene.2020.00555"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2020.00555","relation":{},"ISSN":["1664-8021"],"issn-type":[{"type":"electronic","value":"1664-8021"}],"subject":[],"published":{"date-parts":[[2020,6,12]]},"article-number":"555"}}