Contact and support
Need help, have a question, or want to contact the ResearchHub team?
© 2026 ResearchHub. Built for responsible scholarly connection.
Privacy-aware community infrastructureResearch graph
References from Improved noninvasive fetal variant calling using standardized benchmarking approaches. Local targets link to admitted publications; unresolved targets remain external evidence.
10.1016/s0140-6736(97)02174-0
10.1016/s0140-6736(97)02174-0 · External reference
Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci: Noninvasive prenatal aneuploidy testing at chromosomes 13, 18, 21, X, and Y
10.1002/pd.3993 · 2012 · External reference
10.1073/pnas.0808319105
10.1073/pnas.0808319105 · External reference
10.1073/pnas.0705765104
10.1073/pnas.0705765104 · External reference
10.1373/clinchem.2011.180794
10.1373/clinchem.2011.180794 · External reference
Noninvasive prenatal diagnosis of a fetal microdeletion syndrome
10.1056/nejmc1106975 · 2011 · External reference
10.1016/j.ajhg.2012.12.006
10.1016/j.ajhg.2012.12.006 · External reference
10.1371/journal.pone.0171319
10.1371/journal.pone.0171319 · External reference
10.1073/pnas.0810373105
10.1073/pnas.0810373105 · External reference
10.1038/s41591-018-0334-x
10.1038/s41591-018-0334-x · External reference
10.1373/clinchem.2019.304238
10.1373/clinchem.2019.304238 · External reference
Promises, pitfalls and practicalities of prenatal whole exome sequencing: Promises and pitfalls of prenatal whole exome sequencing
10.1002/pd.5102 · 2018 · External reference
10.1002/pd.4675
10.1002/pd.4675 · External reference
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
10.1016/s0140-6736(18)31940-8 · 2019 · External reference
10.3390/jcm3030747
10.3390/jcm3030747 · External reference
10.1001/jamapediatrics.2017.3438
10.1001/jamapediatrics.2017.3438 · External reference
10.1038/gim.2017.33
10.1038/gim.2017.33 · External reference
10.1016/j.siny.2017.12.002
10.1016/j.siny.2017.12.002 · External reference
10.1126/scitranslmed.3001720
10.1126/scitranslmed.3001720 · External reference
10.1038/nature11251
10.1038/nature11251 · External reference
10.1126/scitranslmed.3004323
10.1126/scitranslmed.3004323 · External reference
10.1373/clinchem.2016.268375
10.1373/clinchem.2016.268375 · External reference
Development and validation of a haplotype‐free technique for non‐invasive prenatal diagnosis of spinal muscular atrophy
2020 · External reference
Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends
2016 · External reference
10.1016/j.csbj.2020.09.003 · Admitted local publication
10.1101/gr.235796.118
10.1101/gr.235796.118 · External reference
10.1056/nejmoa1816614
10.1056/nejmoa1816614 · External reference
A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews
2019 · External reference
Filaggrin 2 deficiency results in abnormal cell-cell adhesion in the cornified cell layers and causes peeling skin syndrome type A
10.1016/j.jid.2018.04.032 · 2018 · External reference
10.1016/j.jid.2021.08.166
10.1016/j.jid.2021.08.166 · External reference
Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype
10.1111/bjd.16502 · 2018 · External reference
Systematic comparison of variant calling pipelines using gold standard personal exome variants
10.1038/srep17875 · 2015 · External reference
Unresolved reference
External reference
A comparison of variant calling pipelines using genome in a bottle as a reference
10.1155/2015/456479 · 2015 · External reference
10.1038/s41587-019-0054-x
10.1038/s41587-019-0054-x · External reference
Unresolved reference
External reference
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
10.1186/gb-2014-15-3-r53 · 2014 · External reference
10.1093/bioinformatics/btp324
10.1093/bioinformatics/btp324 · External reference
10.1038/nmeth.1923
10.1038/nmeth.1923 · External reference
10.1093/bioinformatics/btu314
10.1093/bioinformatics/btu314 · External reference
10.1101/gr.107524.110
10.1101/gr.107524.110 · External reference
10.1093/bioinformatics/btu376
10.1093/bioinformatics/btu376 · External reference
10.1093/bioinformatics/btu668
10.1093/bioinformatics/btu668 · External reference
10.1038/nbt.2835
10.1038/nbt.2835 · External reference
Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends
2016 · External reference
10.1093/bioinformatics/btq033
10.1093/bioinformatics/btq033 · External reference
10.1038/ng.806
10.1038/ng.806 · External reference
