当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > Identifying haplotype block structure using an ancestor-derived model.

Identifying haplotype block structure using an ancestor-derived model.

Abstract：

:Recently, haplotype-based association studies have become popular for detecting disease-related or drug-response-associated genes. In these studies, it has been gradually recognized that a haplotype block structure is important. A rational and automatic method for identifying the haplotype block structure from SNP data has been desired. We have developed a new method using an ancestor-derived model and the minimum description length principle. The proposed method was applied to real data on the TAP2 gene in which a recombination hotspot was previously reported in human sperm data. The proposed method could identify an appropriate haplotype block structure, while existing methods failed. The performance of the proposed method was also investigated in a simulation study. The proposed method presented a better performance in real data analysis and the simulation study than existing methods. The proposed method was powerful from the viewpoint of hotspot sensitivity and was robust to mutation except at the edge of a sequence.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Fujisawa H,Isomura M,Eguchi S,Ushijima M,Miyata S,Miki Y,Matsuura M

doi

10.1007/s10038-007-0176-8

subject

Has Abstract

pub_date

2007-01-01 00:00:00

pages

738-746

issue

9

eissn

1434-5161

issn

1435-232X

pii

10.1007/s10038-007-0176-8

journal_volume

52

pub_type

杂志文章

相关文献

JOURNAL OF HUMAN GENETICS文献大全
  • Association of estrogen receptor alpha gene polymorphisms and lifestyle factors with calcaneal quantitative ultrasound and osteoporosis in postmenopausal Vietnamese women.

    abstract：:Genetic and lifestyle factors are important in the pathogenesis of osteoporosis. We investigated the relationships of PvuII and XbaI polymorphisms of the estrogen receptor alpha (ER-alpha) gene, lifestyle factors with speed of sound at the calcaneus (calcaneal SOS) and osteoporosis in a population-based study of 140 h...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0055-8

    authors： Binh TQ,Shinka T,Khan NC,Hien VTT,Lam NT,Mai LB,Nakano T,Sei M,Yamamoto S,Nakamori M,Nakahori Y

    更新日期：2006-01-01 00:00:00

  • Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease.

    abstract：:Heterozygous pathogenic variants in SLC12A2 are reported in patients with nonsyndromic hearing loss. Recently, homozygous loss-of-function variants have been reported in two patients with syndromic intellectual disability, with or without hearing loss. However, the clinical and molecular spectrum of SLC12A2 disease ha...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-021-00904-2

    authors： Bilal Shamsi M,Saleh M,Almuntashri M,Alharby E,Samman M,Peake RWA,Al-Fadhli FM,Alasmari A,Faqeih EA,Almontashiri NAM

    更新日期：2021-01-27 00:00:00

  • A genealogical assessment of familial clustering of anorectal malformations.

    abstract：:Familial recurrence of anorectal malformations (ARMs) has been reported in single institution case series and in two population-based studies. Here, we investigate the familial aggregation of ARMs using well-established, unbiased methods in a population genealogy of Utah. Study subjects included 255 ARM cases identifi...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0487-y

    authors： Teerlink CC,Bernhisel R,Cannon-Albright LA,Rollins MD

    更新日期：2018-10-01 00:00:00

  • Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis.

    abstract：:22q11.2 duplication syndrome has recently been established as a new syndrome manifesting broad clinical phenotypes including mental retardation. It is reciprocal to DiGeorge (DGS)/velo-cardio-facial syndrome (VCFS), in which the same portion of the chromosome is hemizygously deleted. Deletions and duplications of the ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2011.100

    authors： Shimojima K,Okamoto N,Inazu T,Yamamoto T

    更新日期：2011-11-01 00:00:00

  • Search for active endogenous retroviruses: identification and characterization of a HERV-E gene that is expressed in the pancreas and thyroid.

    abstract：:To elucidate possible physiological functions of human endogenous retroviruses (HERVs) and their role in the pathogenesis of human diseases, we have developed a strategy to identify transcriptionally active HERV genes. By this approach, we have identified and isolated an active HERV-E gene that was mapped to 17q11. Al...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170012

    authors： Shiroma T,Sugimoto J,Oda T,Jinno Y,Kanaya F

    更新日期：2001-01-01 00:00:00

  • The NR4A nuclear receptor family in eosinophils.

    abstract：:It is well-known that many members of the family of nuclear receptors have been implicated in human diseases, and metabolic disorders in particular. The NR4A nuclear receptor family consists of three members, Nur77, Nurr1, and NOR1. All of these are orphan receptors, and Nur77 and NOR1 exert possible pathological role...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1007/s10038-006-0085-2

    authors： Hashida R,Ohkura N,Saito H,Tsujimoto G

    更新日期：2007-01-01 00:00:00

  • Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome.

    abstract：:Mutations of OCRL cause Lowe syndrome, which is characterised by congenital cataracts, infantile hypotonia with mental retardation, and renal tubular dysfunction and Dent-2 disease, which only affects the kidney. While few patients with an intermediate phenotype between these diseases have been reported, the mechanism...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-0773-3

    authors： Nakano E,Yoshida A,Miyama Y,Yabuuchi T,Kajiho Y,Kanda S,Miura K,Oka A,Harita Y

    更新日期：2020-10-01 00:00:00

  • A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.

    abstract：:X-linked inheritance is very rare and is estimated to account for only 1-5% of all nonsyndromic hearing loss cases. We found a multiplex family from China segregating with X-linked nonsyndromic hearing loss. After exclusive analysis of 10 common variations of three hearing loss-related genes, GJB2, mtDNA12srRNA and SL...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0443-x

    authors： Deng Y,Niu Z,Fan L,Ling J,Chen H,Cai X,Mei L,He C,Zhang X,Wen J,Li M,Li W,Li T,Sang S,Liu Y,Feng Y

    更新日期：2018-06-01 00:00:00

  • The role of a common TNNT2 polymorphism in cardiac hypertrophy.

    abstract：:We found a five-basepair insertion/deletion polymorphism in intron 3 of TNNT2, one of the genes responsible for hypertrophic cardiomyopathy. These five bases may be part of an intronic polypyrimidine tract sequence that may affect splicing. The purpose of the study was to examine the association of the polymorphism wi...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0121-4

    authors： Komamura K,Iwai N,Kokame K,Yasumura Y,Kim J,Yamagishi M,Morisaki T,Kimura A,Tomoike H,Kitakaze M,Miyatake K

    更新日期：2004-01-01 00:00:00

  • Erratum to: Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms.

    abstract：:The name Fon-Jou Hsieh was inadvertently omitted from the list of authors. The name should be added as the third author of the article. ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,已发布勘误

    doi：10.1007/s10038-006-0367-8

    authors： Lai LP,Su YN,Hsieh FJ,Chiang FT,Juang JM,Liu YB,Ho YL,Chen WJ,Yeh SJ,Wang CC,Ko YL,Wu TJ,Ueng KC,Lei MH,Tsao HM,Chen SA,Lin TK,Wu MH,Lo HM,Huang SKS,Lin JL

    更新日期：2006-03-01 00:00:00

  • Allelic structures at hypervariable minisatellite B6.7 in Japanese show population specificity.

    abstract：:Human minisatellite B6.7 shows extensive allele length and structural variability in north Europeans. We analysed this locus in the Japanese population. Allele size distributions showed that Japanese retain extensive allele length variability but have significantly smaller alleles compared with north Europeans. In con...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380200031

    authors： Mizukoshi T,Tamaki K,Azumi J,Matsumoto H,Imai K,Jeffreys AJ

    更新日期：2002-01-01 00:00:00

  • "Distribution of paternal lineages in Mestizo populations throughout Mexico: an in silico study based on Y-STR haplotypes".

    abstract：:The Mexican-Mestizo population arose following European contact with the Americas due to the admixture of principally Spaniards, Native Americans, and Africans around 500 years ago. Because the paternal lineage distribution of the Mexican population has been poorly investigated, this study inferred the haplogroups of ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-00824-7

    authors： Aguilar-Velázquez JA,Rangel-Villalobos H

    更新日期：2021-03-01 00:00:00

  • HLA and CTLA4 polymorphisms may confer a synergistic risk in the susceptibility to Graves' disease.

    abstract：:Graves' disease (GD) is an autoimmune disease characterized by hyperthyroidism due to the presence of autoantibodies against thyroid-stimulating hormone receptor, which is measured as thyroid-stimulating hormone-binding inhibitory immunoglobulin (TBII). Most of the GD patients are TBII-positive, but TBII is undetectab...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.20

    authors： Takahashi M,Kimura A

    更新日期：2010-05-01 00:00:00

  • Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis.

    abstract：:Germline mutations of the EVER1/TMC6 gene are associated with epidermodysplasia verruciformis (EV), which is characterized by an abnormal susceptibility to human papillomaviruses that were considered to be innocuous for the general population. In this study, we have employed polymerase chain reaction and DNA sequencin...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0135-6

    authors： Tate G,Suzuki T,Kishimoto K,Mitsuya T

    更新日期：2004-01-01 00:00:00

  • APOBEC3H polymorphisms and susceptibility to HIV-1 infection in an Indian population.

    abstract：:Human APOBEC3H (A3H) is a member of APOBEC cytidine deaminase family intensively constraining the HIV-1 replication. A3H is known to be polymorphic with different protein stability and anti-HIV-1 activity in vitro. We recently reported that A3H haplotypes composed of two functional polymorphisms, rs139292 (N15del) and...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2015.136

    authors： Naruse TK,Sakurai D,Ohtani H,Sharma G,Sharma SK,Vajpayee M,Mehra NK,Kaur G,Kimura A

    更新日期：2016-03-01 00:00:00

  • Treatment of two mitochondrial disease patients with a combination of febuxostat and inosine that enhances cellular ATP.

    abstract：:Since mitochondria are energy-generating micro-organisms, most of the disorders in patients with mitochondrial diseases (mt-disease) are considered secondary to defects in ATP synthesis, although some other factors such as reactive oxygen species may be involved. A simultaneous oral administration of febuxostat and in...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0558-0

    authors： Kamatani N,Kushiyama A,Toyo-Oka L,Toyo-Oka T

    更新日期：2019-04-01 00:00:00

  • No evidence for association of the ENPP1 (PC-1) K121Q variant with risk of type 2 diabetes in a Japanese population.

    abstract：:Ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1, also known as PC-1) inhibits insulin signal transduction pathway(s). Previous studies have demonstrated the K121Q variant of the ENPP1 gene to have a significant functional role in determining susceptibility to insulin resistance and type 2 diabetes (T2D). To...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0399-0

    authors： Keshavarz P,Inoue H,Sakamoto Y,Kunika K,Tanahashi T,Nakamura N,Yoshikawa T,Yasui N,Shiota H,Itakura M

    更新日期：2006-01-01 00:00:00

  • A common variant in the CDKN2B gene on chromosome 9p21 protects against coronary artery disease in Americans of African ancestry.

    abstract：:A 58 kb region on chromosome 9p21.3 has consistently shown strong association with coronary artery disease (CAD) in multiple genome-wide association studies in populations of European and East Asian ancestry. In this study, we sought to further characterize the role of genetic variants in 9p21.3 in African American in...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.171

    authors： Kral BG,Mathias RA,Suktitipat B,Ruczinski I,Vaidya D,Yanek LR,Quyyumi AA,Patel RS,Zafari AM,Vaccarino V,Hauser ER,Kraus WE,Becker LC,Becker DM

    更新日期：2011-03-01 00:00:00

  • Retrotransposal integration of mobile genetic elements in human diseases.

    abstract：:Approximately one-third of the mammalian genome is composed of highly repeated DNA sequences, of which the two major families, the long and short inter-spersed nucleotide elements (LINEs and SINEs), are represented in humans by L1 and Alu elements respectively. Both 'types of element are considered to be retrotranspos...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1007/s100380050045

    authors： Miki Y

    更新日期：1998-01-01 00:00:00

  • Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia.

    abstract：:Osteosclerotic metaphyseal dysplasia (OSMD) is a rare skeletal dysplasia characterized by osteosclerotic metaphyses with osteopenic diaphyses of the long tubular bones. Our previous study identified a homozygous elongation mutation in leucine-rich repeat kinase 1 gene (LRRK1) in a patient with OSMD and showed that Lrr...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.136

    authors： Guo L,Girisha KM,Iida A,Hebbar M,Shukla A,Shah H,Nishimura G,Matsumoto N,Nismath S,Miyake N,Ikegawa S

    更新日期：2017-03-01 00:00:00

  • An integrated genomic analysis of gene-function correlation on schizophrenia susceptibility genes.

    abstract：:Schizophrenia is a highly complex inheritable disease characterized by numerous genetic susceptibility elements, each contributing a modest increase in risk for the disease. Although numerous linkage or association studies have identified a large set of schizophrenia-associated loci, many are controversial. In additio...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.24

    authors： Chu TT,Liu Y

    更新日期：2010-05-01 00:00:00

  • Noncoding RNA and colorectal cancer: its epigenetic role.

    abstract：:The use of novel sequencing and high-throughput techniques has become widespread, and are now readily available to obtain the comprehensive transcription profile of the human genome. Noncoding RNAs (ncRNAs) are transcripts that have no apparent protein-coding capacity, but they have important roles in human physiology...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1038/jhg.2016.66

    authors： Kita Y,Yonemori K,Osako Y,Baba K,Mori S,Maemura K,Natsugoe S

    更新日期：2017-01-01 00:00:00

  • The effect of genetic polymorphisms in the vinyl chloride metabolic pathway on mutagenic risk.

    abstract：:Vinyl chloride (VC) is a human carcinogen known to undergo metabolism by cytochrome P450 2E1 (CYP2E1) to reactive intermediates that can cause oncogene and tumor suppressor gene mutations and that are further metabolized by acetaldehyde dehydrogenase (ALDH2) and glutathione-S-transferases (GSTs) to non-mutagenic end p...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0134-5

    authors： Schindler J,Li Y,Marion MJ,Paroly A,Brandt-Rauf PW

    更新日期：2007-01-01 00:00:00

  • Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity.

    abstract：:Hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) is an adult-onset peripheral neurodegenerative disorder which has been reported only in the Okinawa Islands, Japan. The disease locus of "Okinawa-type" HMSN-P has been previously mapped to 3q13.1, with all affected individuals sharing an identica...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0193-7

    authors： Maeda K,Kaji R,Yasuno K,Jambaldorj J,Nodera H,Takashima H,Nakagawa M,Makino S,Tamiya G

    更新日期：2007-01-01 00:00:00

  • High prevalence of an anti-hypertriglyceridemic variant of the MLXIPL gene in Central Asia.

    abstract：:MLXIPL is a transcription factor integral to the regulation of glycolysis and lipogenesis in the liver. Common variants of the MLXIPL gene (MLXIPL) are known to influence plasma triglyceride levels in people of European descent. As MLXIPL has a key role in energy storage, genetic variations of the MLXIPL may be releva...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2011.109

    authors： Nakayama K,Yanagisawa Y,Ogawa A,Ishizuka Y,Munkhtulga L,Charupoonphol P,Supannnatas S,Kuartei S,Chimedregzen U,Koda Y,Ishida T,Kagawa Y,Iwamoto S

    更新日期：2011-12-01 00:00:00

  • Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis: identification of chromosomal translocation in five families with recurrent miscarriages or a child with multiple congenital anomalies.

    abstract：:Two-color fluorescence in situ hybridization (FISH) analysis using human chromosome arm-specific telomeric probes (telomeric probes) was used successfully to detect each derivative chromosome of a translocation carrier in five couples who requested a prenatal diagnosis in future pregnancies. Most of the human chromoso...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050115

    authors： Wakui K,Tanemura M,Suzumori K,Hidaka E,Ishikawa M,Kubota T,Fukushima Y

    更新日期：1999-01-01 00:00:00

  • A TP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome.

    abstract：:Mutations in CDH1, which encodes E-cadherin, have been associated with hereditary diffuse gastric cancer (HDGC) in Western populations but have not been shown to play a major role in Asians. Recently, a patient with familial gastric cancer (FGC) was shown to harbor a germline mutation in the TP53 gene, which encodes p...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0193-9

    authors： Kim IJ,Kang HC,Shin Y,Park HW,Jang SG,Han SY,Lim SK,Lee MR,Chang HJ,Ku JL,Yang HK,Park JG

    更新日期：2004-01-01 00:00:00

  • Recapitulation of genome-wide association studies on pulse pressure and mean arterial pressure in the Korean population.

    abstract：:Increased pulse pressure (PP) and decreased mean arterial pressure (MAP) are strong prognostic predictors of adverse cardiovascular events. Recently, the International Consortium for Blood Pressure Genome-Wide Association Studies (ICBP-GWAS) reported eight loci that influenced PP and MAP. The ICBP-GWAS examined 51 coh...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.31

    authors： Hong KW,Min H,Heo BM,Joo SE,Kim SS,Kim Y

    更新日期：2012-06-01 00:00:00

  • Confirmation of two novel loci for infantile hypertrophic pyloric stenosis on chromosomes 3 and 5.

    abstract：:Infantile hypertrophic pyloric stenosis (IHPS) is a multifactorial heritable condition affecting infants in the first 3 months of life. It is characterized by hypertrophy of the pylorus resulting in blockage of the pyloric canal. Patients present with projectile vomiting, weight loss and dehydration. Five susceptibili...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2013.10

    authors： Everett KV,Chung EM

    更新日期：2013-04-01 00:00:00

  • Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia.

    abstract：:The 16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA; Online Mendelian Inheritance in Man [OMIN] #117210) is one of the most common ADCAs in Japan. Previously, we had reported that the patients share a common haplotype by founder effect and that a C-to-T substitution (-16C>T) in the puratrophin-1 gene was...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0154-1

    authors： Amino T,Ishikawa K,Toru S,Ishiguro T,Sato N,Tsunemi T,Murata M,Kobayashi K,Inazawa J,Toda T,Mizusawa H

    更新日期：2007-01-01 00:00:00