High resolution non‐invasive detection of a fetal microdeletion using the GCREM algorithm
Identifieur interne : 004B73 ( Main/Merge ); précédent : 004B72; suivant : 004B74High resolution non‐invasive detection of a fetal microdeletion using the GCREM algorithm
Auteurs : Tianjiao Chu [États-Unis] ; Suveyda Yeniterzi [États-Unis] ; Aleksandar Rajkovic [États-Unis] ; W. Allen Hogge [États-Unis] ; Mary Dunkel [États-Unis] ; Patricia Shaw [États-Unis] ; Kimberly Bunce [États-Unis] ; David G. Peters [États-Unis]Source :
- Prenatal Diagnosis [ 0197-3851 ] ; 2014-05.
Descripteurs français
- KwdFr :
- MESH :
English descriptors
- KwdEn :
- MESH :
- chemical , blood : DNA.
- methods : Karyotyping, Sequence Analysis, DNA.
- Algorithms, Aneuploidy, Female, Fetus, Gene Duplication, Humans, Pregnancy, Prenatal Diagnosis.
Abstract
The non‐invasive prenatal detection of fetal microdeletions becomes increasingly challenging as the size of the mutation decreases, with current practical lower limits in the range of a few megabases. Our goals were to explore the lower limits of microdeletion size detection via non‐invasive prenatal tests using Minimally Invasive Karyotyping (MINK) and introduce/evaluate a novel statistical approach we recently developed called the GC Content Random Effect Model (GCREM).
Url:
- https://api.istex.fr/document/B1A28CD3DA7D2C927659C95D2ADE5BED5A8A3C9D/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266320
DOI: 10.1002/pd.4331
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ISTEX:B1A28CD3DA7D2C927659C95D2ADE5BED5A8A3C9DLe document en format XML
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Peters</name><affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Obstetrics, Gynecology and Reproductive Sciences, Magee‐Womens Research Institute, University of Pittsburgh, Pittsburgh, PA</wicri:regionArea><placeName><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Fetal Medicine, Magee‐Womens Research Institute, PA, Pittsburgh</wicri:regionArea><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName></affiliation><affiliation wicri:level="1"><country wicri:rule="url">États-Unis</country></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Prenatal Diagnosis</title><title level="j" type="alt">PRENATAL DIAGNOSIS</title><idno type="ISSN">0197-3851</idno><idno type="eISSN">1097-0223</idno><imprint><biblScope unit="vol">34</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="469">469</biblScope><biblScope unit="page" to="477">477</biblScope><biblScope unit="page-count">9</biblScope><date type="published" when="2014-05">2014-05</date></imprint><idno type="ISSN">0197-3851</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0197-3851</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Algorithms</term><term>Aneuploidy</term><term>DNA (blood)</term><term>Female</term><term>Fetus</term><term>Gene Duplication</term><term>Humans</term><term>Karyotyping (methods)</term><term>Pregnancy</term><term>Prenatal Diagnosis</term><term>Sequence Analysis, DNA (methods)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>ADN (sang)</term><term>Algorithmes</term><term>Analyse de séquence d'ADN ()</term><term>Aneuploïdie</term><term>Caryotypage ()</term><term>Diagnostic prénatal</term><term>Duplication de gène</term><term>Femelle</term><term>Foetus</term><term>Grossesse</term><term>Humains</term></keywords><keywords scheme="MESH" type="chemical" qualifier="blood" xml:lang="en"><term>DNA</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Karyotyping</term><term>Sequence Analysis, DNA</term></keywords><keywords scheme="MESH" qualifier="sang" xml:lang="fr"><term>ADN</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Algorithms</term><term>Aneuploidy</term><term>Female</term><term>Fetus</term><term>Gene Duplication</term><term>Humans</term><term>Pregnancy</term><term>Prenatal Diagnosis</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Algorithmes</term><term>Analyse de séquence d'ADN</term><term>Aneuploïdie</term><term>Caryotypage</term><term>Diagnostic prénatal</term><term>Duplication de gène</term><term>Femelle</term><term>Foetus</term><term>Grossesse</term><term>Humains</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract">The non‐invasive prenatal detection of fetal microdeletions becomes increasingly challenging as the size of the mutation decreases, with current practical lower limits in the range of a few megabases. Our goals were to explore the lower limits of microdeletion size detection via non‐invasive prenatal tests using Minimally Invasive Karyotyping (MINK) and introduce/evaluate a novel statistical approach we recently developed called the GC Content Random Effect Model (GCREM).</div></front></TEI><double doi="10.1002/pd.4331"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">High resolution non‐invasive detection of a fetal microdeletion using the GCREM algorithm</title><author><name sortKey="Chu, Tianjiao" sort="Chu, Tianjiao" uniqKey="Chu T" first="Tianjiao" last="Chu">Tianjiao Chu</name></author><author><name sortKey="Yeniterzi, Suveyda" sort="Yeniterzi, Suveyda" uniqKey="Yeniterzi S" first="Suveyda" last="Yeniterzi">Suveyda Yeniterzi</name></author><author><name sortKey="Rajkovic, Aleksandar" sort="Rajkovic, Aleksandar" uniqKey="Rajkovic A" first="Aleksandar" last="Rajkovic">Aleksandar Rajkovic</name></author><author><name sortKey="Hogge, W Allen" sort="Hogge, W Allen" uniqKey="Hogge W" first="W. Allen" last="Hogge">W. Allen Hogge</name></author><author><name sortKey="Dunkel, Mary" sort="Dunkel, Mary" uniqKey="Dunkel M" first="Mary" last="Dunkel">Mary Dunkel</name></author><author><name sortKey="Shaw, Patricia" sort="Shaw, Patricia" uniqKey="Shaw P" first="Patricia" last="Shaw">Patricia Shaw</name></author><author><name sortKey="Bunce, Kimberly" sort="Bunce, Kimberly" uniqKey="Bunce K" first="Kimberly" last="Bunce">Kimberly Bunce</name></author><author><name sortKey="Peters, David G" sort="Peters, David G" uniqKey="Peters D" first="David G." last="Peters">David G. Peters</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:B1A28CD3DA7D2C927659C95D2ADE5BED5A8A3C9D</idno><date when="2014" year="2014">2014</date><idno type="doi">10.1002/pd.4331</idno><idno type="url">https://api.istex.fr/document/B1A28CD3DA7D2C927659C95D2ADE5BED5A8A3C9D/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002981</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">002981</idno><idno type="wicri:Area/Istex/Curation">002981</idno><idno type="wicri:Area/Istex/Checkpoint">000450</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">000450</idno><idno type="wicri:doubleKey">0197-3851:2014:Chu T:high:resolution:non</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main">High resolution non‐invasive detection of a fetal microdeletion using the GCREM algorithm</title><author><name sortKey="Chu, Tianjiao" sort="Chu, Tianjiao" uniqKey="Chu T" first="Tianjiao" last="Chu">Tianjiao Chu</name><affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Obstetrics, Gynecology and Reproductive Sciences, Magee‐Womens Research Institute, University of Pittsburgh, Pittsburgh, PA</wicri:regionArea><placeName><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Fetal Medicine, Magee‐Womens Research Institute, PA, Pittsburgh</wicri:regionArea><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Yeniterzi, Suveyda" sort="Yeniterzi, Suveyda" uniqKey="Yeniterzi S" first="Suveyda" last="Yeniterzi">Suveyda Yeniterzi</name><affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Obstetrics, Gynecology and Reproductive Sciences, Magee‐Womens Research Institute, University of Pittsburgh, Pittsburgh, PA</wicri:regionArea><placeName><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Fetal Medicine, Magee‐Womens Research Institute, PA, Pittsburgh</wicri:regionArea><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Rajkovic, Aleksandar" sort="Rajkovic, Aleksandar" uniqKey="Rajkovic A" first="Aleksandar" last="Rajkovic">Aleksandar Rajkovic</name><affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Obstetrics, Gynecology and Reproductive Sciences, Magee‐Womens Research Institute, University of Pittsburgh, PA, Pittsburgh</wicri:regionArea><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Hogge, W Allen" sort="Hogge, W Allen" uniqKey="Hogge W" first="W. Allen" last="Hogge">W. Allen Hogge</name><affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Obstetrics, Gynecology and Reproductive Sciences, Magee‐Womens Research Institute, University of Pittsburgh, PA, Pittsburgh</wicri:regionArea><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Dunkel, Mary" sort="Dunkel, Mary" uniqKey="Dunkel M" first="Mary" last="Dunkel">Mary Dunkel</name><affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Obstetrics, Gynecology and Reproductive Sciences, Magee‐Womens Research Institute, University of Pittsburgh, PA, Pittsburgh</wicri:regionArea><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Shaw, Patricia" sort="Shaw, Patricia" uniqKey="Shaw P" first="Patricia" last="Shaw">Patricia Shaw</name><affiliation wicri:level="3"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Fetal Medicine, Magee‐Womens Research Institute, PA, Pittsburgh</wicri:regionArea><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Bunce, Kimberly" sort="Bunce, Kimberly" uniqKey="Bunce K" first="Kimberly" last="Bunce">Kimberly Bunce</name><affiliation wicri:level="3"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Fetal Medicine, Magee‐Womens Research Institute, PA, Pittsburgh</wicri:regionArea><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Peters, David G" sort="Peters, David G" uniqKey="Peters D" first="David G." last="Peters">David G. Peters</name><affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Obstetrics, Gynecology and Reproductive Sciences, Magee‐Womens Research Institute, University of Pittsburgh, Pittsburgh, PA</wicri:regionArea><placeName><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Fetal Medicine, Magee‐Womens Research Institute, PA, Pittsburgh</wicri:regionArea><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName></affiliation><affiliation wicri:level="1"><country wicri:rule="url">États-Unis</country></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Prenatal Diagnosis</title><title level="j" type="alt">PRENATAL DIAGNOSIS</title><idno type="ISSN">0197-3851</idno><idno type="eISSN">1097-0223</idno><imprint><biblScope unit="vol">34</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="469">469</biblScope><biblScope unit="page" to="477">477</biblScope><biblScope unit="page-count">9</biblScope><date type="published" when="2014-05">2014-05</date></imprint><idno type="ISSN">0197-3851</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0197-3851</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract">The non‐invasive prenatal detection of fetal microdeletions becomes increasingly challenging as the size of the mutation decreases, with current practical lower limits in the range of a few megabases. Our goals were to explore the lower limits of microdeletion size detection via non‐invasive prenatal tests using Minimally Invasive Karyotyping (MINK) and introduce/evaluate a novel statistical approach we recently developed called the GC Content Random Effect Model (GCREM).</div></front></TEI></ISTEX><PMC><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">High Resolution Non-Invasive Detection of a Fetal Microdeletion Using the GCREM Algorithm</title><author><name sortKey="Chu, Tianjiao" sort="Chu, Tianjiao" uniqKey="Chu T" first="Tianjiao" last="Chu">Tianjiao Chu</name><affiliation wicri:level="4"><nlm:aff id="A1">Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh</wicri:regionArea><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation><affiliation wicri:level="2"><nlm:aff id="A2">Center for Fetal Medicine, Magee-Womens Research Institute, Pittsburgh, Pennsylvania</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Center for Fetal Medicine, Magee-Womens Research Institute, Pittsburgh</wicri:cityArea></affiliation></author><author><name sortKey="Yeniterzi, Suveyda" sort="Yeniterzi, Suveyda" uniqKey="Yeniterzi S" first="Suveyda" last="Yeniterzi">Suveyda Yeniterzi</name><affiliation wicri:level="4"><nlm:aff id="A1">Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh</wicri:regionArea><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation><affiliation wicri:level="2"><nlm:aff id="A2">Center for Fetal Medicine, Magee-Womens Research Institute, Pittsburgh, Pennsylvania</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Center for Fetal Medicine, Magee-Womens Research Institute, Pittsburgh</wicri:cityArea></affiliation></author><author><name sortKey="Rajkovic, Aleksandar" sort="Rajkovic, Aleksandar" uniqKey="Rajkovic A" first="Aleksandar" last="Rajkovic">Aleksandar Rajkovic</name><affiliation wicri:level="4"><nlm:aff id="A1">Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh</wicri:regionArea><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Hogge, W Allen" sort="Hogge, W Allen" uniqKey="Hogge W" first="W. Allen" last="Hogge">W. Allen Hogge</name><affiliation wicri:level="4"><nlm:aff id="A1">Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh</wicri:regionArea><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Dunkel, Mary" sort="Dunkel, Mary" uniqKey="Dunkel M" first="Mary" last="Dunkel">Mary Dunkel</name><affiliation wicri:level="4"><nlm:aff id="A1">Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh</wicri:regionArea><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Shaw, Patricia" sort="Shaw, Patricia" uniqKey="Shaw P" first="Patricia" last="Shaw">Patricia Shaw</name><affiliation wicri:level="2"><nlm:aff id="A2">Center for Fetal Medicine, Magee-Womens Research Institute, Pittsburgh, Pennsylvania</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Center for Fetal Medicine, Magee-Womens Research Institute, Pittsburgh</wicri:cityArea></affiliation></author><author><name sortKey="Bunce, Kimberly" sort="Bunce, Kimberly" uniqKey="Bunce K" first="Kimberly" last="Bunce">Kimberly Bunce</name><affiliation wicri:level="2"><nlm:aff id="A2">Center for Fetal Medicine, Magee-Womens Research Institute, Pittsburgh, Pennsylvania</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Center for Fetal Medicine, Magee-Womens Research Institute, Pittsburgh</wicri:cityArea></affiliation></author><author><name sortKey="Peters, David G" sort="Peters, David G" uniqKey="Peters D" first="David G." last="Peters">David G. Peters</name><affiliation wicri:level="4"><nlm:aff id="A1">Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh</wicri:regionArea><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation><affiliation wicri:level="2"><nlm:aff id="A2">Center for Fetal Medicine, Magee-Womens Research Institute, Pittsburgh, Pennsylvania</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Center for Fetal Medicine, Magee-Womens Research Institute, Pittsburgh</wicri:cityArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24452987</idno><idno type="pmc">4266320</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266320</idno><idno type="RBID">PMC:4266320</idno><idno type="doi">10.1002/pd.4331</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">001485</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001485</idno><idno type="wicri:Area/Pmc/Curation">001460</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001460</idno><idno type="wicri:Area/Pmc/Checkpoint">001117</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001117</idno><idno type="wicri:source">PubMed</idno><idno type="wicri:Area/PubMed/Corpus">003062</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003062</idno><idno type="wicri:Area/PubMed/Curation">003041</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">003041</idno><idno type="wicri:Area/PubMed/Checkpoint">003041</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">003041</idno><idno type="wicri:Area/Ncbi/Merge">000D60</idno><idno type="wicri:Area/Ncbi/Curation">000D60</idno><idno type="wicri:Area/Ncbi/Checkpoint">000D60</idno><idno type="wicri:doubleKey">0197-3851:2014:Chu T:high:resolution:non</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">High Resolution Non-Invasive Detection of a Fetal Microdeletion Using the GCREM Algorithm</title><author><name sortKey="Chu, Tianjiao" sort="Chu, Tianjiao" uniqKey="Chu T" first="Tianjiao" last="Chu">Tianjiao Chu</name><affiliation wicri:level="4"><nlm:aff id="A1">Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh</wicri:regionArea><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation><affiliation wicri:level="2"><nlm:aff id="A2">Center for Fetal Medicine, Magee-Womens Research Institute, Pittsburgh, Pennsylvania</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Center for Fetal Medicine, Magee-Womens Research Institute, Pittsburgh</wicri:cityArea></affiliation></author><author><name sortKey="Yeniterzi, Suveyda" sort="Yeniterzi, Suveyda" uniqKey="Yeniterzi S" first="Suveyda" last="Yeniterzi">Suveyda Yeniterzi</name><affiliation wicri:level="4"><nlm:aff id="A1">Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh</wicri:regionArea><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation><affiliation wicri:level="2"><nlm:aff id="A2">Center for Fetal Medicine, Magee-Womens Research Institute, Pittsburgh, Pennsylvania</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Center for Fetal Medicine, Magee-Womens Research Institute, Pittsburgh</wicri:cityArea></affiliation></author><author><name sortKey="Rajkovic, Aleksandar" sort="Rajkovic, Aleksandar" uniqKey="Rajkovic A" first="Aleksandar" last="Rajkovic">Aleksandar Rajkovic</name><affiliation wicri:level="4"><nlm:aff id="A1">Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh</wicri:regionArea><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Hogge, W Allen" sort="Hogge, W Allen" uniqKey="Hogge W" first="W. Allen" last="Hogge">W. Allen Hogge</name><affiliation wicri:level="4"><nlm:aff id="A1">Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh</wicri:regionArea><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Dunkel, Mary" sort="Dunkel, Mary" uniqKey="Dunkel M" first="Mary" last="Dunkel">Mary Dunkel</name><affiliation wicri:level="4"><nlm:aff id="A1">Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh</wicri:regionArea><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Shaw, Patricia" sort="Shaw, Patricia" uniqKey="Shaw P" first="Patricia" last="Shaw">Patricia Shaw</name><affiliation wicri:level="2"><nlm:aff id="A2">Center for Fetal Medicine, Magee-Womens Research Institute, Pittsburgh, Pennsylvania</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Center for Fetal Medicine, Magee-Womens Research Institute, Pittsburgh</wicri:cityArea></affiliation></author><author><name sortKey="Bunce, Kimberly" sort="Bunce, Kimberly" uniqKey="Bunce K" first="Kimberly" last="Bunce">Kimberly Bunce</name><affiliation wicri:level="2"><nlm:aff id="A2">Center for Fetal Medicine, Magee-Womens Research Institute, Pittsburgh, Pennsylvania</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Center for Fetal Medicine, Magee-Womens Research Institute, Pittsburgh</wicri:cityArea></affiliation></author><author><name sortKey="Peters, David G" sort="Peters, David G" uniqKey="Peters D" first="David G." last="Peters">David G. Peters</name><affiliation wicri:level="4"><nlm:aff id="A1">Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh</wicri:regionArea><placeName><settlement type="city">Pittsburgh</settlement><region type="state">Pennsylvanie</region></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation><affiliation wicri:level="2"><nlm:aff id="A2">Center for Fetal Medicine, Magee-Womens Research Institute, Pittsburgh, Pennsylvania</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Center for Fetal Medicine, Magee-Womens Research Institute, Pittsburgh</wicri:cityArea></affiliation></author></analytic><series><title level="j">Prenatal diagnosis</title><idno type="ISSN">0197-3851</idno><idno type="eISSN">1097-0223</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Algorithms</term><term>Aneuploidy</term><term>DNA (blood)</term><term>Female</term><term>Fetus</term><term>Gene Duplication</term><term>Humans</term><term>Karyotyping (methods)</term><term>Pregnancy</term><term>Prenatal Diagnosis</term><term>Sequence Analysis, DNA (methods)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>ADN (sang)</term><term>Algorithmes</term><term>Analyse de séquence d'ADN ()</term><term>Aneuploïdie</term><term>Caryotypage ()</term><term>Diagnostic prénatal</term><term>Duplication de gène</term><term>Femelle</term><term>Foetus</term><term>Grossesse</term><term>Humains</term></keywords><keywords scheme="MESH" type="chemical" qualifier="blood" xml:lang="en"><term>DNA</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Karyotyping</term><term>Sequence Analysis, DNA</term></keywords><keywords scheme="MESH" qualifier="sang" xml:lang="fr"><term>ADN</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Algorithms</term><term>Aneuploidy</term><term>Female</term><term>Fetus</term><term>Gene Duplication</term><term>Humans</term><term>Pregnancy</term><term>Prenatal Diagnosis</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Algorithmes</term><term>Analyse de séquence d'ADN</term><term>Aneuploïdie</term><term>Caryotypage</term><term>Diagnostic prénatal</term><term>Duplication de gène</term><term>Femelle</term><term>Foetus</term><term>Grossesse</term><term>Humains</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background/Objective:</title><p id="P1">The non-invasive prenatal detection of fetal microdeletions becomes increasingly challenging as the size of the mutation decreases, with current practical lower limits in the range of a few Mb. Our goals were to explore the lower limits of microdeletion size detection via NIPT using MINK and introduce/evaluate a novel statistical approach we recently developed called the GC Content Random Effect Model (GCREM).</p></sec><sec id="S2"><title>Methods:</title><p id="P2">Maternal plasma was obtained from a pregnancy affected by a 4.2Mb fetal microdeletion and three normal controls. Plasma DNA was subjected to capture of an 8Mb sequence spanning the breakpoint region and sequenced. Data were analyzed with our published method, Minimally Invasive Karyotyping (MINK) and a new method called GCREM.</p></sec><sec id="S3"><title>Results:</title><p id="P3">The 8Mb capture segment was divided into either 38 or 76 non-overlapping regions of 200Kb and 100Kb respectively. At 200Kb resolution, using GCREM (but not MINK) we obtained significant adjusted p values for all 20 regions overlapping the deleted sequence, and non-significant p values for all 18 reference regions. At 100Kb resolution, GCREM identified significant adjusted p values for all but one 100Kb region located inside the deleted region.</p></sec><sec id="S4"><title>Conclusion:</title><p id="P4">Targeted sequencing and GCREM analysis may enable cost effective detection of fetal microdeletions and microduplications at high resolution.</p></sec></div></front></TEI></PMC></double></record>Pour manipuler ce document sous Unix (Dilib)
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