Determining the incidence of rare diseases.


:Extremely rare diseases are increasingly recognized due to wide-spread, inexpensive genomic sequencing. Understanding the incidence of rare disease is important for appreciating its health impact and allocating recourses for research. However, estimating incidence of rare disease is challenging because the individual contributory alleles are, themselves, extremely rare. We propose a new method to determine incidence of rare, severe, recessive disease in non-consanguineous populations that use known allele frequencies, estimate the combined allele frequency of observed alleles and estimate the number of causative alleles that are thus far unobserved in a disease cohort. Experiments on simulated and real data show that this approach is a feasible method to estimate the incidence of rare disease in European populations but due to several limitations in our ability to assess the full spectrum of pathogenic mutations serves as a useful tool to provide a lower threshold on disease incidence.


Hum Genet


Human genetics


Bainbridge MN




Has Abstract


2020-05-01 00:00:00














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    authors: Little MH,Thomson DB,Hayward NK,Smith PJ

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  • The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.

    abstract::A linkage analysis has been performed in a large Dutch kindred with progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) using a panel of X-chromosomal RFLPs. Tight linkage (zmax = 3.07 at 0 = theta = 0.00) was demonstrated with the locus for phosphoglycerate kinase (PGK), which is located...

    journal_title:Human genetics

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    authors: Brunner HG,van Bennekom A,Lambermon EM,Oei TL,Cremers WR,Wieringa B,Ropers HH

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  • Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations.

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    journal_title:Human genetics

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    更新日期:2002-07-01 00:00:00

  • Spectrum of large copy number variations in 26 diverse Indian populations: potential involvement in phenotypic diversity.

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    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Gautam P,Jha P,Kumar D,Tyagi S,Varma B,Dash D,Mukhopadhyay A,Indian Genome Variation Consortium.,Mukerji M

    更新日期:2012-01-01 00:00:00

  • Rejoining between 9q+ and Philadelphia chromosomes results in normal-looking chromosomes 9 and 22 in Ph1-negative chronic myelocytic leukemia.

    abstract::Rearrangement of the breakpoint cluster region (bcr) and the chromosomal location of c-abl and 3'-bcr were studied in two patients with Philadelphia chromosome (Ph1)-negative chronic myelocytic leukemia (CML). One patient (patient 1) had a normal karyotype and the other (patient 2), 46,XY,inv(3)(q21q26). Both patients...

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    authors: Inazawa J,Nishigaki H,Takahira H,Nishimura J,Horiike S,Taniwaki M,Misawa S,Abe T

    更新日期:1989-09-01 00:00:00

  • Acceptability of carrier screening for cystic fibrosis during pregnancy in a German population.

    abstract::A pilot project offering voluntary heterozygote screening for the delta F508 mutation causing cystic fibrosis (CF) to 638 pregnant women attending two antenatal clinics in the eastern part of Berlin was carried out from 1990-1993. Participation was invited using an information leaflet and inclusion in the study was co...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Jung U,Urner U,Grade K,Coutelle C

    更新日期:1994-07-01 00:00:00

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    pub_type: 杂志文章


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    pub_type: 杂志文章


    authors: Sayli BS,Yaltkaya K,Cin S

    更新日期:1984-01-01 00:00:00

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    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Cooper DN,Youssoufian H

    更新日期:1988-02-01 00:00:00

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    authors: Ezquieta B,Oliver A,Gracia R,Gancedo PG

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    authors: Citarella F,Tripodi M,Fantoni A,Bernardi F,Romeo G,Rocchi M

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    authors: Beck S,Schmitt H,Shizuya H,Blin N,Gött P

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    authors: Herrlich P,Mallick U,Ponta H,Rahmsdorf HJ

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    pub_type: 已发布勘误


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    authors: Graham A,Kalsheker NA,Bamforth FJ,Newton CR,Markham AF

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    authors: Isozumi K,DeLong R,Kaplan J,Hung WY,Siddique T

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    authors: Wolff DJ,Gustashaw KM,Zurcher V,Ko L,White W,Weiss L,Van Dyke DL,Schwartz S,Willard HF

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    pub_type: 杂志文章,评审


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    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Osborn MJ,Upadhyaya M

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    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Macgregor S,Cornes BK,Martin NG,Visscher PM

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    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Ford JH,Callen DF,Jahnke AB,Roberts CG

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    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Buchanan JA,Buckton KE,Gosden CM,Newton MS,Clayton JF,Christie S,Hastie N

    更新日期:1987-06-01 00:00:00

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    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Tung JY,Rosen MP,Nelson LM,Turek PJ,Witte JS,Cramer DW,Cedars MI,Pera RA

    更新日期:2006-02-01 00:00:00

  • Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology.

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    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Mackay DJ,Temple IK,Shield JP,Robinson DO

    更新日期:2005-03-01 00:00:00

  • The Alu I-induced bands in metaphase chromosomes of orangutan (Pongo pygmaeus). Implications for the distribution pattern of highly repetitive DNA sequences.

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    journal_title:Human genetics

    pub_type: 杂志文章


    authors: De Stefano GF,Romano E,Ferrucci L

    更新日期:1986-03-01 00:00:00

  • Cytogenetic effects of influenza virus infection on male germ cells of mice.

    abstract::Swiss albino male mice were administered two doses (1 and 2 HA units) of influenza A2 Hong Kong/68 virus IP. The incidence of chromosomal anomalies in spermatocytes was analysed at various times post infection and was found to be significantly higher than in controls, indicating that the influenza virus had induced th...

    journal_title:Human genetics

    pub_type: 杂志文章


    authors: Sharma G,Polasa H

    更新日期:1978-12-18 00:00:00