当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > A resolution of the ascertainment sampling problem. II. Generalizations and numerical results.

A resolution of the ascertainment sampling problem. II. Generalizations and numerical results.

Abstract：

:The ascertainment problem arises when families are sampled by a nonrandom process and some assumption about this sampling process must be made in order to estimate genetic parameters. Under classical ascertainment assumptions, estimation of genetic parameters cannot be separated from estimation of the parameters of the ascertainment process, so that any misspecification of the ascertainment process causes biases in estimation of the genetic parameters. Ewens and Shute proposed a resolution to this problem, involving conditioning the likelihood of the sample on the part of the data which is "relevant to ascertainment." The usefulness of this approach can only be assessed by examining the properties (in particular, bias and standard error) of the estimates which arise by using it for a wide range of parameter values and family size distributions and then comparing these biases and standard errors with those arising under classical ascertainment procedures. These comparisons are carried out in the present paper, and we also compare the proposed method with procedures which condition on, or ignore, parts of the data.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Shute NC,Ewens WJ

subject

Has Abstract

pub_date

1988-10-01 00:00:00

pages

374-86

issue

4

eissn

0002-9297

issn

1537-6605

journal_volume

43

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.

    abstract：:Next-generation sequencing (NGS) enables analysis of the human genome on a scale previously unachievable by Sanger sequencing. Exome sequencing of the coding regions and conserved splice sites has been very successful in the identification of disease-causing mutations, and targeting of these regions has extended clini...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.11.017

    authors： Flanagan SE,Xie W,Caswell R,Damhuis A,Vianey-Saban C,Akcay T,Darendeliler F,Bas F,Guven A,Siklar Z,Ocal G,Berberoglu M,Murphy N,O'Sullivan M,Green A,Clayton PE,Banerjee I,Clayton PT,Hussain K,Weedon MN,Ellard S

    更新日期：2013-01-10 00:00:00

  • Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19.

    abstract：:Congenital limb malformations rank behind only congenital heart disease as the most common birth defects observed in infants. Finding genes that cause defects in human limb patterning should be straightforward but has been limited, in part, by the bewildering spectrum of phenotypes, which are difficult to separate int...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/301687

    authors： O'Quinn JR,Hennekam RC,Jorde LB,Bamshad M

    更新日期：1998-01-01 00:00:00

  • HLA and the inheritance of multiple sclerosis: linkage analysis of 72 pedigrees.

    abstract：:Linkage analysis of 72 pedigrees by the maximum-likelihood method provides evidence of linkage between HLA and the hypothesized multiple sclerosis susceptibility gene (MSSG) for both the dominant and recessive models of inheritance and for penetrance values ranging from 5%--65% (or higher). This MSSG, if it exists, is...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Tiwari JL,Hodge SE,Terasaki PI,Spence MA

    更新日期：1980-01-01 00:00:00

  • Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes.

    abstract：:A total of 254 affected parent-child pairs with Huntington disease (HD) and 440 parent-child pairs with CAG size in the normal range were assessed to determine the nature and frequency of intergenerational CAG changes in the HD gene. Intergenerational CAG changes are extremely rare (3/440 [0.68%]) on normal chromosome...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Kremer B,Almqvist E,Theilmann J,Spence N,Telenius H,Goldberg YP,Hayden MR

    更新日期：1995-08-01 00:00:00

  • Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.

    abstract：:Distal hereditary motor neuronopathy type VII (dHMN-VII) is an autosomal dominant disorder characterized by distal muscular atrophy and vocal cord paralysis. We performed a genomewide linkage search in a large Welsh pedigree with dHMN-VII and established linkage to chromosome 2q14. Analyses of a second family with dHM...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/320122

    authors： McEntagart M,Norton N,Williams H,Teare MD,Dunstan M,Baker P,Houlden H,Reilly M,Wood N,Harper PS,Futreal PA,Williams N,Rahman N

    更新日期：2001-05-01 00:00:00

  • Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.

    abstract：:The risk of epilepsy among individuals with intellectual disability (ID) is approximately ten times that of the general population. From a cohort of >5,000 families affected by neurodevelopmental disorders, we identified six consanguineous families harboring homozygous inactivating variants in MBOAT7, encoding lysopho...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2016.07.019

    authors： Johansen A,Rosti RO,Musaev D,Sticca E,Harripaul R,Zaki M,Çağlayan AO,Azam M,Sultan T,Froukh T,Reis A,Popp B,Ahmed I,John P,Ayub M,Ben-Omran T,Vincent JB,Gleeson JG,Abou Jamra R

    更新日期：2016-10-06 00:00:00

  • A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.

    abstract：:Richieri-Costa-Pereira syndrome is an autosomal-recessive acrofacial dysostosis characterized by mandibular median cleft associated with other craniofacial anomalies and severe limb defects. Learning and language disabilities are also prevalent. We mapped the mutated gene to a 122 kb region at 17q25.3 through identity...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2013.11.020

    authors： Favaro FP,Alvizi L,Zechi-Ceide RM,Bertola D,Felix TM,de Souza J,Raskin S,Twigg SR,Weiner AM,Armas P,Margarit E,Calcaterra NB,Andersen GR,McGowan SJ,Wilkie AO,Richieri-Costa A,de Almeida ML,Passos-Bueno MR

    更新日期：2014-01-02 00:00:00

  • A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.

    abstract：:More than 270 million people worldwide have hearing loss that affects normal communication. Although astonishing progress has been made in the identification of more than 50 genes for deafness during the past decade, the majority of deafness genes are yet to be identified. In this study, we mapped a previously unknown...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2010.04.004

    authors： Sirmaci A,Erbek S,Price J,Huang M,Duman D,Cengiz FB,Bademci G,Tokgöz-Yilmaz S,Hişmi B,Ozdağ H,Oztürk B,Kulaksizoğlu S,Yildirim E,Kokotas H,Grigoriadou M,Petersen MB,Shahin H,Kanaan M,King MC,Chen ZY,Blanton SH,L

    更新日期：2010-05-14 00:00:00

  • Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.

    abstract：:Kohlschütter-Tönz syndrome (KTS) is an autosomal-recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. The molecular basis has not yet been elucidated. Here, we report that KTS is caused by mutations in ROGDI. Using a combination of autozygosity mapping an...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.02.012

    authors： Schossig A,Wolf NI,Fischer C,Fischer M,Stocker G,Pabinger S,Dander A,Steiner B,Tönz O,Kotzot D,Haberlandt E,Amberger A,Burwinkel B,Wimmer K,Fauth C,Grond-Ginsbach C,Koch MJ,Deichmann A,von Kalle C,Bartram CR,Kohls

    更新日期：2012-04-06 00:00:00

  • X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13.

    abstract：:Molecular linkage analysis was performed on a kindred with X-linked sideroblastic anemia and ataxia. Two-point analysis with a DNA probe for phosphoglycerate kinase (PGK1), which maps to Xq13, suggested linkage to the disorder by a lod score of at least 2.60 at a recombination fraction of zero. The disease in this kin...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Raskind WH,Wijsman E,Pagon RA,Cox TC,Bawden MJ,May BK,Bird TD

    更新日期：1991-02-01 00:00:00

  • The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

    abstract：:Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular condition or as part of a systemic disease in over 400 Mendelian conditions. The underlying molecular etiology remains largely unknown because of genetic and phenotypic heterogeneity. We applied exome sequencing (ES) in a cohor...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2019.05.015

    authors： Pehlivan D,Bayram Y,Gunes N,Coban Akdemir Z,Shukla A,Bierhals T,Tabakci B,Sahin Y,Gezdirici A,Fatih JM,Gulec EY,Yesil G,Punetha J,Ocak Z,Grochowski CM,Karaca E,Albayrak HM,Radhakrishnan P,Erdem HB,Sahin I,Yildirim

    更新日期：2019-07-03 00:00:00

  • Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.

    abstract：:Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the formation of cartilage-capped prominences that develop from the growth centers of the long bones. EXT is genetically heterogeneous, with three loci, currently identified on chromosomes 8q24.1, 11p13, and 19q. The EXT1 gene, loca...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Hecht JT,Hogue D,Wang Y,Blanton SH,Wagner M,Strong LC,Raskind W,Hansen MF,Wells D

    更新日期：1997-01-01 00:00:00

  • Direct segregation analysis of reciprocal translocations: a study of 283 sperm karyotypes from four carriers.

    abstract：:Using the technique of in vitro human-hamster fertilization, sperm of four men heterozygous for 4 reciprocal translocations--t(4;17),t(5;13),t(6;7), and t(9;18)--was studied. Frequencies of numerical abnormalities unrelated to the translocations range from 8.3% to 13.3%, and the incidence of imbalances ranges from 23....

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Pellestor F,Sèle B,Jalbert H,Jalbert P

    更新日期：1989-04-01 00:00:00

  • A cell hybrid and recombinant DNA library that facilitate identification of polymorphic loci in the vicinity of the Huntington disease gene.

    abstract：:Somatic cell hybrids were selected that retain a derivative chromosome 5 from an individual in which the p15.1-pter segment of chromosome 5 is replaced with the p15.1-pter segment of chromosome 4. Hybrids that retain this derivative chromosome exclusively were found to be positive for G8, a DNA marker closely linked t...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Wasmuth JJ,Carlock LR,Smith B,Immken LL

    更新日期：1986-09-01 00:00:00

  • Proportion of genome shared identical by descent by relatives: concept, computation, and applications.

    abstract：:One widely used measure of genetic similarity for pairs of relatives is gene identity-by-descent (IBD) sharing. Genes that are copies of a single gene in a common ancestor of the individuals who now carry them are said to be IBD. One obvious extension of the IBD concept is IBD gene(s) shared by more than two individua...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Guo SW

    更新日期：1995-06-01 00:00:00

  • Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift.

    abstract：:A patient with lactic acidosis showed a lowered pyruvate dehydrogenase E1 activity and fatigued on slight exercise. The cDNA encoding the pyruvate dehydrogenase E1 alpha-subunit from his lymphocytes, transformed by infection of Epstein-Barr virus, was cloned and sequenced. The nucleotide sequence determination reveale...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Endo H,Hasegawa K,Narisawa K,Tada K,Kagawa Y,Ohta S

    更新日期：1989-03-01 00:00:00

  • Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON).

    abstract：:Pathogenetic mutations in mtDNA are found in the majority of patients with Leber hereditary optic neuropathy (LHON), and molecular genetic techniques to detect them are important for the diagnosis. A false-positive molecular genetic error has adverse consequences for the diagnosis of this maternally inherited disease....

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Johns DR,Neufeld MJ

    更新日期：1993-10-01 00:00:00

  • Polymporphism of human C-band heterochromatin. II. Family studies with suggestive evidence for somatic crossing over.

    abstract：:An analysis of the inherited pattern of C-band heterochromatin has been made in five pedigrees containing a total of 33 offspring that were available for analysis. The majority of variants were found to be inherited; however, at least seven of the 99 variants were not present in either parent, and an additional seven ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Craig-Holmes AP,Moore FB,Shaw MW

    更新日期：1975-03-01 00:00:00

  • Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.

    abstract：:We have previously demonstrated genetic linkage between the type VII collagen gene (COL7A1) and the dominant (DDEB) and recessive (RDEB) forms of dystrophic epidermolysis bullosa (DEB) and have subsequently identified pathogenetic mutations in several families. Mutations in DDEB identified thus far are glycine substit...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Christiano AM,Anton-Lamprecht I,Amano S,Ebschner U,Burgeson RE,Uitto J

    更新日期：1996-04-01 00:00:00

  • A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).

    abstract：:Hermansky-Pudlak syndrome (HPS) is genetically heterogeneous, and mutations in seven genes have been reported to cause HPS. Autozygosity mapping studies were undertaken in a large consanguineous family with HPS. Affected individuals displayed features of incomplete oculocutaneous albinism and platelet dysfunction. Ski...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/499338

    authors： Morgan NV,Pasha S,Johnson CA,Ainsworth JR,Eady RA,Dawood B,McKeown C,Trembath RC,Wilde J,Watson SP,Maher ER

    更新日期：2006-01-01 00:00:00

  • Evidence for autosomal dominant inheritance of prostate cancer.

    abstract：:A family-history cancer survey was conducted on 5,486 men who underwent a radical prostatectomy, for clinically localized prostate cancer, in the Department of Urology at the Mayo Clinic during 1966-95; 4,288 men responded to the survey. Complex segregation analysis was performed to assess the genetic basis of age at ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/301862

    authors： Schaid DJ,McDonnell SK,Blute ML,Thibodeau SN

    更新日期：1998-06-01 00:00:00

  • X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase.

    abstract：:Histochemical assay for ornithine transcarbamylase (OTC) activity in fixed frozen hepatic sections from a woman heterozygous for OTC deficiency revealed two populations of hepatocytes: those with normal activity and those with no activity. This observation, in conjunction with data from previous family studies, confir...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Ricciuti FC,Gelehrter TD,Rosenberg LE

    更新日期：1976-07-01 00:00:00

  • PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases.

    abstract：:Recently, to speed up the differential-diagnosis process based on symptoms and signs observed from an affected individual in the diagnosis of rare diseases, researchers have developed and implemented phenotype-driven differential-diagnosis systems. The performance of those systems relies on the quantity and quality of...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.08.003

    authors： Fujiwara T,Yamamoto Y,Kim JD,Buske O,Takagi T

    更新日期：2018-09-06 00:00:00

  • Genome-wide comparison of African-ancestry populations from CARe and other cohorts reveals signals of natural selection.

    abstract：:The study of recent natural selection in human populations has important applications to human history and medicine. Positive natural selection drives the increase in beneficial alleles and plays a role in explaining diversity across human populations. By discovering traits subject to positive selection, we can better...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2011.07.025

    authors： Bhatia G,Patterson N,Pasaniuc B,Zaitlen N,Genovese G,Pollack S,Mallick S,Myers S,Tandon A,Spencer C,Palmer CD,Adeyemo AA,Akylbekova EL,Cupples LA,Divers J,Fornage M,Kao WH,Lange L,Li M,Musani S,Mychaleckyj JC,Og

    更新日期：2011-09-09 00:00:00

  • Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.

    abstract：:The human SNRPN (small nuclear ribonucleoprotein polypeptide N) gene is one of a gene family that encode proteins involved in pre-mRNA splicing and maps to the smallest deletion region involved in the Prader-Willi syndrome (PWS) within chromosome 15q11-q13. Paternal only expression of SNRPN has previously been demonst...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Glenn CC,Saitoh S,Jong MT,Filbrandt MM,Surti U,Driscoll DJ,Nicholls RD

    更新日期：1996-02-01 00:00:00

  • Chronic and recurrent otitis media: a genome scan for susceptibility loci.

    abstract：:Otitis media (OM) is the most common childhood disease. Almost all children experience at least one episode, but morbidity is greatest in children who experience chronic/recurrent OM (COME/ROM). There is mounting evidence that COME/ROM clusters in families and exhibits substantial heritability. Subjects who had tympan...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/426061

    authors： Daly KA,Brown WM,Segade F,Bowden DW,Keats BJ,Lindgren BR,Levine SC,Rich SS

    更新日期：2004-12-01 00:00:00

  • Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.

    abstract：:Fuchs endothelial corneal dystrophy (FECD) is a common disease for which corneal transplantation is the only treatment option in advanced stages, and alternative treatment strategies are urgently required. Expansion (≥50 copies) of a non-coding trinucleotide repeat in TCF4 confers >76-fold risk for FECD in our large c...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.02.010

    authors： Zarouchlioti C,Sanchez-Pintado B,Hafford Tear NJ,Klein P,Liskova P,Dulla K,Semo M,Vugler AA,Muthusamy K,Dudakova L,Levis HJ,Skalicka P,Hysi P,Cheetham ME,Tuft SJ,Adamson P,Hardcastle AJ,Davidson AE

    更新日期：2018-04-05 00:00:00

  • BRCA2 in American families with four or more cases of breast or ovarian cancer: recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2.

    abstract：:In order to evaluate the role of inherited BRCA2 mutations in American families--particularly the appearance in America of European founder mutations--the BRCA2 coding sequence, 5' UTR, and 3' UTR were screened in 22 Caucasian American kindreds with four or more cases of breast or ovarian cancer. Six mutations were fo...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Schubert EL,Lee MK,Mefford HC,Argonza RH,Morrow JE,Hull J,Dann JL,King MC

    更新日期：1997-05-01 00:00:00

  • Partial trisomy 14 (q23 leads to qter) via segregation of a 14/X translocation.

    abstract：:An infant with delayed development and multiple congenital anomalies was found to possess a duplication of 14q23 leads to qter. This imbalance arose through segregation of a maternal 14/X translocation, observed in only 28% of the mother's cells. Although the X-chromosome-derived portion of the translocation was late ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Cohen MM,Charrow J,Balkin NE,Harris CJ

    更新日期：1983-07-01 00:00:00

  • Antenatal diagnosis of glutaric acidemia.

    abstract：:Two pregnancies at risk for glutaric acidemia were monitored. In one, in which the fetus was not affected, glutaric acid was not detected in the amniotic fluid at amniocentesis (15 weeks) and the glutaryl-CoA dehydrogenase activity of cultured amniotic cells was normal. In the other, a marked elevation of glutaric aci...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Goodman SI,Gallegos DA,Pullin CJ,Halpern B,Truscott RJ,Wise G,Wilcken B,Ryan ED,Whelen DT

    更新日期：1980-09-01 00:00:00