Pyrosequencing: an accurate detection platform for single nucleotide polymorphisms.


:Pyrosequencing, a non-electrophoretic method for DNA sequencing, is emerging as a popular platform for analysis of single nucleotide polymorphisms (SNPs). This technology has the advantage of accuracy, ease-of-use, and high flexibility for different applications. Here, we review the methodology and the use of this technique for SNP genotyping, SNP discovery, haplotyping, and allelic frequency studies. In addition, we describe new schemes for template preparation and multiplexing as an effort for cost reduction in large-scale studies.


Hum Mutat


Human mutation


Fakhrai-Rad H,Pourmand N,Ronaghi M





Has Abstract


2002-05-01 00:00:00












  • Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.

    abstract::BRCA1 and BRCA2 testing for hereditary breast and ovarian cancer (HBOC) does not identify all pathogenic variants. Sequencing of 20 complete genes in HBOC patients with uninformative test results (N = 287), including noncoding and flanking sequences of ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Caminsky NG,Mucaki EJ,Perri AM,Lu R,Knoll JH,Rogan PK

    更新日期:2016-07-01 00:00:00

  • Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration.

    abstract::Stargardt macular degeneration (Stargardt disease 1 [STGD1]) is caused by mutations in the gene encoding ABCA4, an ATP-binding cassette protein that transports N-retinylidene-phosphatidylethanolamine (N-Ret-PE) across photoreceptor membranes. Reduced ABCA4 activity results in retinoid accumulation leading to photorece...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Curtis SB,Molday LL,Garces FA,Molday RS

    更新日期:2020-11-01 00:00:00

  • Mutations of the APC (adenomatous polyposis coli) gene.

    abstract::Several investigators have reported germline mutations of the APC gene in patients with familial adenomatous polyposis (FAP) as well as somatic mutations in tumors developed in digestive organs (stomach, pancreas, colon, and rectum). Those results provide evidence that inactivation of the APC gene plays a significant ...

    journal_title:Human mutation

    pub_type: 杂志文章,评审


    authors: Nagase H,Nakamura Y

    更新日期:1993-01-01 00:00:00

  • HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment Scheme.

    abstract::The recommendations for the description of sequence variants from the Human Genome Variation Society (HGVS) were published in 2000. Over the years, the recommendations became widely adopted, especially in human clinical genetics and DNA laboratory reporting. As part of a testing scheme performed by the United Kingdom ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Deans ZC,Fairley JA,den Dunnen JT,Clark C

    更新日期:2016-06-01 00:00:00

  • Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency.

    abstract::Primary systemic carnitine deficiency (SCD) is an autosomal recessive disorder of fatty acid oxidation caused by defective cellular carnitine transport. The disease is characterized by metabolic derangement simulating Reye's syndrome, hypoglcaemia, progressive cardiomyopathy and skeletal myopathy. Recently, it was sho...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Mayatepek E,Nezu J,Tamai I,Oku A,Katsura M,Shimane M,Tsuji A

    更新日期:2000-01-01 00:00:00

  • Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.

    abstract::Meckel-Gruber syndrome (MKS) is an autosomal recessive, lethal multisystemic disorder characterized by meningooccipital encephalocele, cystic kidney dysplasia, hepatobiliary ductal plate malformation, and postaxial polydactyly. Recently, genes for MKS1 and MKS3 were identified, putting MKS on the list of ciliary disor...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Frank V,den Hollander AI,Brüchle NO,Zonneveld MN,Nürnberg G,Becker C,Du Bois G,Kendziorra H,Roosing S,Senderek J,Nürnberg P,Cremers FP,Zerres K,Bergmann C

    更新日期:2008-01-01 00:00:00

  • TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.

    abstract::Human malignant infantile osteopetrosis (arOP) is a genetically heterogeneous autosomal recessive disorder of bone metabolism. The TCIRG1 gene, encoding the a3 subunit of the vacuolar proton pump, which mediates the acidification of the bone/osteoclast interface, is responsible for more than one-half of the arOP patie...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Susani L,Pangrazio A,Sobacchi C,Taranta A,Mortier G,Savarirayan R,Villa A,Orchard P,Vezzoni P,Albertini A,Frattini A,Pagani F

    更新日期:2004-09-01 00:00:00

  • The human TBX5 gene mutation database.

    abstract::Germline mutations of the TBX5 gene were identified as the primary cause in up to 70% of patients with Holt-Oram syndrome (HOS), an autosomal dominant disorder characterized by malformations of the upper limbs and cardiac defects. Furthermore, somatic mutations of the TBX5 gene have been described in diseased heart ti...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Heinritz W,Shou L,Moschik A,Froster UG

    更新日期:2005-10-01 00:00:00

  • Somatic expansion in mouse and human carriers of fragile X premutation alleles.

    abstract::Repeat expansion diseases result from expansion of a specific tandem repeat. The three fragile X-related disorders (FXDs) arise from germline expansions of a CGG•CCG repeat tract in the 5' UTR (untranslated region) of the fragile X mental retardation 1 (FMR1) gene. We show here that in addition to germline expansion, ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Lokanga RA,Entezam A,Kumari D,Yudkin D,Qin M,Smith CB,Usdin K

    更新日期:2013-01-01 00:00:00

  • Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.

    abstract::Tuberous sclerosis complex (TSC) is a dominantly inherited multisystem disorder resulting in the development of hamartomatous growths in many organs. Genetic heterogeneity has been demonstrated linking the familial cases to either TSC1 at 9q34.3, or TSC2 at 16p13.3. About two-thirds of the TSC cases are sporadic and a...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Beauchamp RL,Banwell A,McNamara P,Jacobsen M,Higgins E,Northrup H,Short P,Sims K,Ozelius L,Ramesh V

    更新日期:1998-01-01 00:00:00

  • MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.

    abstract::Accurate mitochondrial DNA (mtDNA) variant annotation is essential for the clinical diagnosis of diverse human diseases. Substantial challenges to this process include the inconsistency in mtDNA nomenclatures, the existence of multiple reference genomes, and a lack of reference population frequency data. Clinicians ne...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Shen L,Attimonelli M,Bai R,Lott MT,Wallace DC,Falk MJ,Gai X

    更新日期:2018-06-01 00:00:00

  • Massive parallel DNA pyrosequencing analysis of the tumor suppressor BRG1/SMARCA4 in lung primary tumors.

    abstract::The tumor suppressor gene, SMARCA4 (or BRG1), which encodes the ATPase component of the chromatin remodeling complex SWI/SNF, is commonly inactivated by mutations and deletions in lung cancer cell lines. However, SMARCA4 alterations appear to be rare in lung primary tumors. Ultra-deep sequencing technologies provide a...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Rodriguez-Nieto S,Cañada A,Pros E,Pinto AI,Torres-Lanzas J,Lopez-Rios F,Sanchez-Verde L,Pisano DG,Sanchez-Cespedes M

    更新日期:2011-02-01 00:00:00

  • Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.

    abstract::MED13L is a component subunit of the Mediator complex, an important regulator of transcription that is highly conserved across eukaryotes. Here, we report MED13L disruption in a translocation t(12;19) breakpoint of a patient with Pierre-Robin syndrome, moderate intellectual disability, craniofacial anomalies, and musc...

    journal_title:Human mutation

    pub_type: 杂志文章,评审


    authors: Utami KH,Winata CL,Hillmer AM,Aksoy I,Long HT,Liany H,Chew EG,Mathavan S,Tay SK,Korzh V,Sarda P,Davila S,Cacheux V

    更新日期:2014-11-01 00:00:00

  • A novel splice site mutation of the EXT2 gene in a Finnish hereditary multiple exostoses family. Mutations in brief no. 197. Online.

    abstract::Hereditary multiple exostoses is a dominantly inherited disease characterized by multiple benign osteochondromas. The affected individuals have an increased risk of developing sarcoma. A large Finnish family with hereditary multiple exostosis was analyzed to find the disease-causing mutation. Blood samples were obtain...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Wolf M,Hemminki A,Kivioja A,Sistonen P,Kaitila I,Ervasti H,Kinnunen J,Karaharju E,Knuutila S

    更新日期:1998-01-01 00:00:00

  • Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method.

    abstract::To investigate the molecular basis of familial hypercholesterolemia (FH) in France, we applied the single strand conformation polymorphism (SSCP) method to the promoter region and the 18 exons of the low density lipoprotein receptor (LDLR) gene. Seven probands, 4 heterozygotes, 2 compound heterozygotes, and 1 homozygo...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Loux N,Saint-Jore B,Collod G,Dairou F,Benlian P,Truffert J,Dastugue B,Douste-Blazy P,de Gennes JL,Junien C

    更新日期:1992-01-01 00:00:00

  • An online locus-specific mutation database for familial hypertrophic cardiomyopathy.

    abstract::The aim of this locus-specific mutation database was to provide an online resource that contains summarised and updated information on familial hypertrophic cardiomyopathy (FHC)-associated mutations and related data, for researchers and clinicians. It also serves as a means of publishing previously unpublished data, w...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Fung DC,Yu B,Littlejohn T,Trent RJ

    更新日期:1999-01-01 00:00:00

  • Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy.

    abstract::Influenza-associated encephalopathy (IAE) is characterized by persistent high fever, febrile convulsions, severe brain edema, and high mortality in otherwise apparently healthy individuals. We have reported that a large proportion of patients suffering from disabling or fatal IAE, with transiently elevated serum acylc...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Yao D,Mizuguchi H,Yamaguchi M,Yamada H,Chida J,Shikata K,Kido H

    更新日期:2008-05-01 00:00:00

  • Homologous loci DXYS156X and DXYS156Y contain a polymorphic pentanucleotide repeat (TAAAA)n and map to human X and Y chromosomes.

    abstract::We report the isolation and characterization of a polymorphic pentanucleotide repeat (TAAAA)n, which was mapped to human chromosomes X and Y (loci DXYS156X and DXYS156Y) by PCR amplification of DNA from a monochromosomal somatic cell hybrid panel (NIGMS panel 2). The (TAAAA)n repeat of loci DXYS156 occurs within a hum...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Chen H,Lowther W,Avramopoulos D,Antonarakis SE

    更新日期:1994-01-01 00:00:00

  • Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?

    abstract::Mitochondrial transfer RNA (mt-tRNA) mutations are the commonest mitochondrial (mtDNA) mutations to cause human disease. The majority of mt-tRNA mutations are heteroplasmic and while some exhibit maternal transmission within families, many others are only seen as sporadic mutations. Using the available clinical, bioch...

    journal_title:Human mutation

    pub_type: 杂志文章,meta分析


    authors: Elson JL,Swalwell H,Blakely EL,McFarland R,Taylor RW,Turnbull DM

    更新日期:2009-11-01 00:00:00

  • Determination of haplotypes from single DNA molecules: a method for single-molecule barcoding.

    abstract::Determining the haplotypes in a diploid individual is a major technical challenge in genetic studies of human complex traits. Here we report a method of molecular haplotyping by directly imaging multiple polymorphic sites on individual DNA molecules simultaneously. DNA fragments amplified by long-range PCR were labele...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Xiao M,Gordon MP,Phong A,Ha C,Chan TF,Cai D,Selvin PR,Kwok PY

    更新日期:2007-09-01 00:00:00

  • Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy.

    abstract::Leber hereditary optic neuropathy (LHON) is a maternally inherited eye disease most commonly caused by mitochondrial DNA (mtDNA) point mutation at position 11778, 3460, or 14484. Approximately 14% of families show heteroplasmy for the pathogenic mutations but little is known about the mutational burden in different ti...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Juvonen V,Nikoskelainen E,Lamminen T,Penttinen M,Aula P,Savontaus ML

    更新日期:1997-01-01 00:00:00

  • Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating.

    abstract::Considerable differences exist for the spectrum of GJB2 mutations in different populations. Screening for the c.35delG mutation in 256 independent probands, 154 multiplex (familial) and 102 simplex (sporadic), coming from different regions of Turkey revealed 37 (14.5%) homozygotes. The allele frequency of c.35delG ran...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Tekin M,Duman T,Boğoçlu G,Incesulu A,Comak E,Ilhan I,Akar N

    更新日期:2003-05-01 00:00:00

  • A new large CFTR rearrangement illustrates the importance of searching for complex alleles.

    abstract::The p.Val754Met variant, described in 1996 in a CF patient, has been considered a CF mutation. However, biochemical aspects, results of functional studies and, finally, the identification of a complex deletion removing exons 3 to 10 and 14b to 16 in cis of p.Val754Met in a CF patient, argue against a strong deleteriou...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Niel F,Legendre M,Bienvenu T,Bieth E,Lalau G,Sermet I,Bondeux D,Boukari R,Derelle J,Levy P,Ruszniewski P,Martin J,Costa C,Goossens M,Girodon E

    更新日期:2006-07-01 00:00:00

  • CAGI 5 splicing challenge: Improved exon skipping and intron retention predictions with MMSplice.

    abstract::Pathogenic genetic variants often primarily affect splicing. However, it remains difficult to quantitatively predict whether and how genetic variants affect splicing. In 2018, the fifth edition of the Critical Assessment of Genome Interpretation proposed two splicing prediction challenges based on experimental perturb...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Cheng J,Çelik MH,Nguyen TYD,Avsec Ž,Gagneur J

    更新日期:2019-09-01 00:00:00

  • DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: two novel mutations.

    abstract::Many different mutations that cause Alzheimer's disease (AD) have been found in the presenilin-1 gene (PSEN1) and are associated with the most aggressive forms of the disease. With the aim of screening for PSEN1 genetic variations, we developed a method based on denaturing gradient gel electrophoresis (DGGE) that allo...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Aldudo J,Bullido MJ,Valdivieso F

    更新日期:1999-01-01 00:00:00

  • Alternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapies.

    abstract::The correction of premature termination codons (PTCs) by agents that promote readthrough represents a promising emerging tool for the treatment of many genetic diseases. The efficiency of the treatment, however, varies depending on the stop codon itself and the amount of correctible transcripts related to the efficien...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Hinzpeter A,Aissat A,de Becdelièvre A,Bieth E,Sondo E,Martin N,Costes B,Costa C,Goossens M,Galietta LJ,Girodon E,Fanen P

    更新日期:2013-02-01 00:00:00

  • Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Mutations in brief no. 162. Online.

    abstract::The maturity-onset diabetes of the young (MODY), an autosomal dominant form of non-insulin dependent diabetes mellitus (NIDDM), is caused by mutations in the glucokinase (GK, MODY 2) and in the hepatocyte nuclear factor 1a (MODY 3) and 4a (MODY 1) genes. We have screened the glucokinase gene by the polymerase chain re...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Guazzini B,Gaffi D,Mainieri D,Multari G,Cordera R,Bertolini S,Pozza G,Meschi F,Barbetti F

    更新日期:1998-01-01 00:00:00

  • Retinitis pigmentosa mutations of SNRNP200 enhance cryptic splice-site recognition.

    abstract::Mutations in SNRP200 gene cause autosomal-dominant retinal disorder retinitis pigmentosa (RP). The protein product of SNRNP200 is BRR2, a DExD/H box RNA helicase crucial for pre-mRNA splicing. In this study, we prepared p.S1087L and p.R1090L mutations of human BRR2 using bacterial artificial chromosome recombineering ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Cvačková Z,Matějů D,Staněk D

    更新日期:2014-03-01 00:00:00

  • Structural assessment of single amino acid mutations: application to TP53 function.

    abstract::Single amino acid substitution is the type of protein alteration most related to human diseases. Current studies seek primarily to distinguish neutral mutations from harmful ones. Very few methods offer an explanation of the final prediction result in terms of the probable structural or functional effect on the protei...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Yip YL,Zoete V,Scheib H,Michielin O

    更新日期:2006-09-01 00:00:00

  • Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations.

    abstract::Low-density lipoprotein receptor (LDLR) gene mutations cause familial hypercholesterol-emia (FH), one of the most common single gene disorders. The spectrum of LDLR mutations in Brazil is not known. The aim of this study was the characterization of LDLR mutations in 35 unrelated Brazilian patients with heterozygous FH...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Salazar LA,Hirata MH,Cavalli SA,Nakandakare ER,Forti N,Diament J,Giannini SD,Bertolami MC,Hirata RD

    更新日期:2002-04-01 00:00:00