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Noninvasive fetal genome sequencing: a primer.
Prenat Diagn. 2013 Jun;33(6):547-54. doi: 10.1002/pd.4097. Epub 2013 Apr 1.
2
Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends.
Proc Natl Acad Sci U S A. 2016 Dec 13;113(50):E8159-E8168. doi: 10.1073/pnas.1615800113. Epub 2016 Oct 31.
3
Noninvasive whole-genome sequencing of a human fetus.
Sci Transl Med. 2012 Jun 6;4(137):137ra76. doi: 10.1126/scitranslmed.3004323.
4
Probabilistic method for detecting copy number variation in a fetal genome using maternal plasma sequencing.
Bioinformatics. 2014 Jun 15;30(12):i212-8. doi: 10.1093/bioinformatics/btu292.
6
Genome-Wide Noninvasive Prenatal Diagnosis of De Novo Mutations.
Methods Mol Biol. 2021;2243:249-269. doi: 10.1007/978-1-0716-1103-6_12.
7
Fetal aneuploidy detection by maternal plasma DNA sequencing: a technology assessment.
Prenat Diagn. 2013 Jun;33(6):514-20. doi: 10.1002/pd.4109.
8
Noninvasive prenatal testing using cell-free fetal DNA in maternal plasma.
Curr Protoc Hum Genet. 2015 Jan 20;84:8.15.1-8.15.20. doi: 10.1002/0471142905.hg0815s84.

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1
Noninvasive prenatal exome sequencing diagnostic utility limited by sequencing depth and fetal fraction.
Prenat Diagn. 2022 May;42(5):567-573. doi: 10.1002/pd.6009. Epub 2021 Jul 21.
2
Bayesian-based noninvasive prenatal diagnosis of single-gene disorders.
Genome Res. 2019 Mar;29(3):428-438. doi: 10.1101/gr.235796.118. Epub 2019 Feb 20.
3
"This lifetime commitment": Public conceptions of disability and noninvasive prenatal genetic screening.
Am J Med Genet A. 2016 Feb;170A(2):363-374. doi: 10.1002/ajmg.a.37459. Epub 2015 Nov 14.
5
Defining "mutation" and "polymorphism" in the era of personal genomics.
BMC Med Genomics. 2015 Jul 15;8:37. doi: 10.1186/s12920-015-0115-z.
7
DFLAT: functional annotation for human development.
BMC Bioinformatics. 2014 Feb 7;15:45. doi: 10.1186/1471-2105-15-45.
8
Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road?
Clin Chem. 2014 Jan;60(1):78-87. doi: 10.1373/clinchem.2013.202663. Epub 2013 Nov 19.

本文引用的文献

2
Karyotype versus microarray testing for genetic abnormalities after stillbirth.
N Engl J Med. 2012 Dec 6;367(23):2185-93. doi: 10.1056/NEJMoa1201569.
3
Chromosomal microarray versus karyotyping for prenatal diagnosis.
N Engl J Med. 2012 Dec 6;367(23):2175-84. doi: 10.1056/NEJMoa1203382.
4
Fetal aneuploidy screening by maternal plasma DNA sequencing: 'false positive' due to confined placental mosaicism.
Prenat Diagn. 2013 Feb;33(2):198-200. doi: 10.1002/pd.4024. Epub 2012 Nov 27.
5
Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy.
Obstet Gynecol. 2012 Dec;120(6):1532-4. doi: 10.1097/01.AOG.0000423819.85283.f4.
6
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
Science. 2012 Dec 21;338(6114):1619-22. doi: 10.1126/science.1227764. Epub 2012 Nov 15.
7
The expanding scope of DNA sequencing.
Nat Biotechnol. 2012 Nov;30(11):1084-94. doi: 10.1038/nbt.2421. Epub 2012 Nov 8.
8
FetalQuant: deducing fractional fetal DNA concentration from massively parallel sequencing of DNA in maternal plasma.
Bioinformatics. 2012 Nov 15;28(22):2883-90. doi: 10.1093/bioinformatics/bts549. Epub 2012 Sep 8.
9
Rate of de novo mutations and the importance of father's age to disease risk.
Nature. 2012 Aug 23;488(7412):471-5. doi: 10.1038/nature11396.
10
Non-invasive fetal genome sequencing: opportunities and challenges.
Am J Med Genet A. 2012 Oct;158A(10):2382-4. doi: 10.1002/ajmg.a.35545. Epub 2012 Aug 10.

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