Ontology type: schema:ScholarlyArticle Open Access: True
2018-02-13
AUTHORSMun Young Chang, Soyeon Ahn, Min Young Kim, Jin Hee Han, Hye-Rim Park, Han Kyu Seo, Jinsun Yoon, Seungmin Lee, Doo-Yi Oh, Changsoo Kang, Byung Yoon Choi
ABSTRACTPreviously, we introduced a noninvasive prenatal testing (NIPT) protocol for diagnosing compound heterozygous autosomal recessive point mutations via maternal plasma DNA and simulated control genomic DNA sampling based on fetal DNA fraction. In our present study, we have improved our NIPT protocol to make it possible to diagnose homozygous autosomal recessive point mutations without the need to acquire fetal DNA fraction. Moreover, chi-squared test and empirical statistical range based on the proportion of mutant allele reads among the total reads served as the gatekeeping method. If this method yielded inconclusive results, then the Bayesian method was performed; final conclusion was drawn from the results of both methods. This protocol was applied to three families co-segregating congenital sensorineural hearing loss with monogenic homozygous mutations in prevalent deafness genes. This protocol successfully predicted the fetal genotypes from all families without the information about fetal DNA fraction using one-step dPCR reactions at least for these three families. Furthermore, we suspect that confirmatory diagnosis under this protocol is possible, not only by using picodroplet dPCR, but also by using the more readily available chip-based dPCR, making our NIPT protocol more useful in the diagnosis of autosomal recessive point mutations in the future. More... »
PAGES2877
http://scigraph.springernature.com/pub.10.1038/s41598-018-21236-w
DOIhttp://dx.doi.org/10.1038/s41598-018-21236-w
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1100901830
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/29440752
JSON-LD is the canonical representation for SciGraph data.
TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT
[
{
"@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json",
"about": [
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Biological Sciences",
"type": "DefinedTerm"
},
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Genetics",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Fetus",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genotype",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Homozygote",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Humans",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Point Mutation",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Polymerase Chain Reaction",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Prenatal Diagnosis",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Department of Otorhinolaryngology-Head and Neck Surgery, Chung-Ang University College of Medicine, 102 Heukseok-ro, 06973, Dongjak-gu, Seoul, Republic of Korea",
"id": "http://www.grid.ac/institutes/grid.254224.7",
"name": [
"Department of Otorhinolaryngology-Head and Neck Surgery, Chung-Ang University College of Medicine, 102 Heukseok-ro, 06973, Dongjak-gu, Seoul, Republic of Korea"
],
"type": "Organization"
},
"familyName": "Chang",
"givenName": "Mun Young",
"id": "sg:person.01137505074.43",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01137505074.43"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Medical Research Collaborating Center, Seoul National University Bundang Hospital, 82 Gumi-ro 173 beon-gil, 13620, Bundang-gu, Seongnam, Republic of Korea",
"id": "http://www.grid.ac/institutes/grid.412480.b",
"name": [
"Medical Research Collaborating Center, Seoul National University Bundang Hospital, 82 Gumi-ro 173 beon-gil, 13620, Bundang-gu, Seongnam, Republic of Korea"
],
"type": "Organization"
},
"familyName": "Ahn",
"givenName": "Soyeon",
"id": "sg:person.0612662613.04",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0612662613.04"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Otorhinolaryngology, Seoul National University Bundang Hospital, 82 Gumi-ro 173 beon-gil, 13620, Bundang-gu, Seongnam, Republic of Korea",
"id": "http://www.grid.ac/institutes/grid.412480.b",
"name": [
"Department of Otorhinolaryngology, Seoul National University Bundang Hospital, 82 Gumi-ro 173 beon-gil, 13620, Bundang-gu, Seongnam, Republic of Korea"
],
"type": "Organization"
},
"familyName": "Kim",
"givenName": "Min Young",
"id": "sg:person.01241512164.96",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01241512164.96"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Otorhinolaryngology, Seoul National University Bundang Hospital, 82 Gumi-ro 173 beon-gil, 13620, Bundang-gu, Seongnam, Republic of Korea",
"id": "http://www.grid.ac/institutes/grid.412480.b",
"name": [
"Department of Otorhinolaryngology, Seoul National University Bundang Hospital, 82 Gumi-ro 173 beon-gil, 13620, Bundang-gu, Seongnam, Republic of Korea"
],
"type": "Organization"
},
"familyName": "Han",
"givenName": "Jin Hee",
"id": "sg:person.07662401505.03",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07662401505.03"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Otorhinolaryngology, Seoul National University Bundang Hospital, 82 Gumi-ro 173 beon-gil, 13620, Bundang-gu, Seongnam, Republic of Korea",
"id": "http://www.grid.ac/institutes/grid.412480.b",
"name": [
"Department of Otorhinolaryngology, Seoul National University Bundang Hospital, 82 Gumi-ro 173 beon-gil, 13620, Bundang-gu, Seongnam, Republic of Korea"
],
"type": "Organization"
},
"familyName": "Park",
"givenName": "Hye-Rim",
"id": "sg:person.012424317720.71",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012424317720.71"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "LAS Inc., 16 Arayuk-ro, 10136, Gimpo, Republic of Korea",
"id": "http://www.grid.ac/institutes/None",
"name": [
"LAS Inc., 16 Arayuk-ro, 10136, Gimpo, Republic of Korea"
],
"type": "Organization"
},
"familyName": "Seo",
"givenName": "Han Kyu",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Bio-Medical Science Co., Ltd., BMS Bldg., 22 Yeoksam-ro 7-gil, 06244, Gangnam-gu, Seoul, Republic of Korea",
"id": "http://www.grid.ac/institutes/grid.507694.9",
"name": [
"Bio-Medical Science Co., Ltd., BMS Bldg., 22 Yeoksam-ro 7-gil, 06244, Gangnam-gu, Seoul, Republic of Korea"
],
"type": "Organization"
},
"familyName": "Yoon",
"givenName": "Jinsun",
"id": "sg:person.011212033541.06",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011212033541.06"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Otorhinolaryngology, Seoul National University Bundang Hospital, 82 Gumi-ro 173 beon-gil, 13620, Bundang-gu, Seongnam, Republic of Korea",
"id": "http://www.grid.ac/institutes/grid.412480.b",
"name": [
"Department of Otorhinolaryngology, Seoul National University Bundang Hospital, 82 Gumi-ro 173 beon-gil, 13620, Bundang-gu, Seongnam, Republic of Korea"
],
"type": "Organization"
},
"familyName": "Lee",
"givenName": "Seungmin",
"id": "sg:person.010130207745.02",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010130207745.02"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Otorhinolaryngology, Seoul National University Bundang Hospital, 82 Gumi-ro 173 beon-gil, 13620, Bundang-gu, Seongnam, Republic of Korea",
"id": "http://www.grid.ac/institutes/grid.412480.b",
"name": [
"Department of Otorhinolaryngology, Seoul National University Bundang Hospital, 82 Gumi-ro 173 beon-gil, 13620, Bundang-gu, Seongnam, Republic of Korea"
],
"type": "Organization"
},
"familyName": "Oh",
"givenName": "Doo-Yi",
"id": "sg:person.0647217423.03",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0647217423.03"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Biology and Research Institute of Basic Sciences, College of Natural Sciences, Sungshin Women\u2019s University, Dongseon-dong 3-ga, 01133, Seongbuk-gu, Seoul, Republic of Korea",
"id": "http://www.grid.ac/institutes/grid.264383.8",
"name": [
"Department of Biology and Research Institute of Basic Sciences, College of Natural Sciences, Sungshin Women\u2019s University, Dongseon-dong 3-ga, 01133, Seongbuk-gu, Seoul, Republic of Korea"
],
"type": "Organization"
},
"familyName": "Kang",
"givenName": "Changsoo",
"id": "sg:person.01002054637.40",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01002054637.40"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Wide River Institute of Immunology, Seoul National University College of Medicine, 101 Dabyeonbat-gil, 25159, Hwachon-myeon, Hongcheon, Republic of Korea",
"id": "http://www.grid.ac/institutes/grid.31501.36",
"name": [
"Department of Otorhinolaryngology, Seoul National University Bundang Hospital, 82 Gumi-ro 173 beon-gil, 13620, Bundang-gu, Seongnam, Republic of Korea",
"Wide River Institute of Immunology, Seoul National University College of Medicine, 101 Dabyeonbat-gil, 25159, Hwachon-myeon, Hongcheon, Republic of Korea"
],
"type": "Organization"
},
"familyName": "Choi",
"givenName": "Byung Yoon",
"id": "sg:person.015415500052.28",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015415500052.28"
],
"type": "Person"
}
],
"citation": [
{
"id": "sg:pub.10.1038/s41598-017-16676-9",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1092917969",
"https://doi.org/10.1038/s41598-017-16676-9"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/srep37153",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1051396658",
"https://doi.org/10.1038/srep37153"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/gim.2014.51",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1012215211",
"https://doi.org/10.1038/gim.2014.51"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/gim.2017.54",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1085584764",
"https://doi.org/10.1038/gim.2017.54"
],
"type": "CreativeWork"
}
],
"datePublished": "2018-02-13",
"datePublishedReg": "2018-02-13",
"description": "Previously, we introduced a noninvasive prenatal testing (NIPT) protocol for diagnosing compound heterozygous autosomal recessive point mutations via maternal plasma DNA and simulated control genomic DNA sampling based on fetal DNA fraction. In our present study, we have improved our NIPT protocol to make it possible to diagnose homozygous autosomal recessive point mutations without the need to acquire fetal DNA fraction. Moreover, chi-squared test and empirical statistical range based on the proportion of mutant allele reads among the total reads served as the gatekeeping method. If this method yielded inconclusive results, then the Bayesian method was performed; final conclusion was drawn from the results of both methods. This protocol was applied to three families co-segregating congenital sensorineural hearing loss with monogenic homozygous mutations in prevalent deafness genes. This protocol successfully predicted the fetal genotypes from all families without the information about fetal DNA fraction using one-step dPCR reactions at least for these three families. Furthermore, we suspect that confirmatory diagnosis under this protocol is possible, not only by using picodroplet dPCR, but also by using the more readily available chip-based dPCR, making our NIPT protocol more useful in the diagnosis of autosomal recessive point mutations in the future.",
"genre": "article",
"id": "sg:pub.10.1038/s41598-018-21236-w",
"inLanguage": "en",
"isAccessibleForFree": true,
"isPartOf": [
{
"id": "sg:journal.1045337",
"issn": [
"2045-2322"
],
"name": "Scientific Reports",
"publisher": "Springer Nature",
"type": "Periodical"
},
{
"issueNumber": "1",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "8"
}
],
"keywords": [
"fetal DNA fraction",
"maternal plasma DNA",
"protocol",
"dPCR",
"digital PCR",
"DNA fraction",
"point mutations",
"method",
"noninvasive prenatal testing",
"plasma DNA",
"DNA",
"congenital sensorineural hearing loss",
"range",
"sensorineural hearing loss",
"confirmatory diagnosis",
"chi-squared test",
"PCR",
"hearing loss",
"reaction",
"homozygous point mutation",
"recessive point mutations",
"results",
"homozygous mutation",
"deafness genes",
"fetal genotype",
"future",
"mutant alleles",
"loss",
"diagnosis",
"prenatal testing",
"testing protocol",
"fraction",
"present study",
"reads",
"inconclusive results",
"mutations",
"genes",
"need",
"chip-based dPCR",
"testing",
"test",
"conclusion",
"information",
"proportion",
"alleles",
"final conclusion",
"genotypes",
"family",
"study",
"total reads",
"statistical range",
"sampling",
"DNA sampling",
"Bayesian methods"
],
"name": "One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR",
"pagination": "2877",
"productId": [
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1100901830"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1038/s41598-018-21236-w"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"29440752"
]
}
],
"sameAs": [
"https://doi.org/10.1038/s41598-018-21236-w",
"https://app.dimensions.ai/details/publication/pub.1100901830"
],
"sdDataset": "articles",
"sdDatePublished": "2022-05-20T07:35",
"sdLicense": "https://scigraph.springernature.com/explorer/license/",
"sdPublisher": {
"name": "Springer Nature - SN SciGraph project",
"type": "Organization"
},
"sdSource": "s3://com-springernature-scigraph/baseset/20220519/entities/gbq_results/article/article_782.jsonl",
"type": "ScholarlyArticle",
"url": "https://doi.org/10.1038/s41598-018-21236-w"
}
]
Download the RDF metadata as: json-ld nt turtle xml License info
JSON-LD is a popular format for linked data which is fully compatible with JSON.
curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/s41598-018-21236-w'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s41598-018-21236-w'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41598-018-21236-w'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41598-018-21236-w'
This table displays all metadata directly associated to this object as RDF triples.
246 TRIPLES
22 PREDICATES
91 URIs
79 LITERALS
14 BLANK NODES