scholarly article | Q13442814 |
P50 | author | Kun Sun | Q44160284 |
P2093 | author name string | Peiyong Jiang | |
Rossa W K Chiu | |||
Tak Y Leung | |||
K C Allen Chan | |||
Yu K Tong | |||
Yuk Ming Dennis Lo | |||
Yvonne K Y Cheng | |||
Suk Hang Cheng | |||
Ada I C Wong | |||
Irena Hudecova | |||
P2860 | cites work | DNA Sequencing versus Standard Prenatal Aneuploidy Screening | Q22250872 |
Fast gapped-read alignment with Bowtie 2 | Q27860699 | ||
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans | Q28145667 | ||
SOAP2: an improved ultrafast tool for short read alignment | Q28247469 | ||
Characterizing and measuring bias in sequence data | Q30635784 | ||
Plasma DNA tissue mapping by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments | Q30667824 | ||
Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma | Q33682367 | ||
Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing. | Q33767643 | ||
Haplotype-resolved genome sequencing of a Gujarati Indian individual. | Q33775428 | ||
Whole-genome molecular haplotyping of single cells | Q33902780 | ||
Non-invasive prenatal measurement of the fetal genome | Q34286073 | ||
De novo mutations in human genetic disease | Q34288731 | ||
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study | Q34482155 | ||
Noninvasive prenatal molecular karyotyping from maternal plasma | Q34683906 | ||
High-resolution characterization of sequence signatures due to non-random cleavage of cell-free DNA. | Q35665317 | ||
Noninvasive whole-genome sequencing of a human fetus. | Q36048523 | ||
Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations | Q36165615 | ||
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach. | Q36311237 | ||
Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin | Q36468959 | ||
Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma | Q36595101 | ||
Haplotype-assisted accurate non-invasive fetal whole genome recovery through maternal plasma sequencing | Q36998320 | ||
Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma | Q37000915 | ||
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma | Q37010246 | ||
Calculating the fetal fraction for noninvasive prenatal testing based on genome-wide nucleosome profiles | Q37418057 | ||
Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia. | Q40057027 | ||
Cell-free DNA analysis for noninvasive examination of trisomy | Q46784231 | ||
FetalQuant: deducing fractional fetal DNA concentration from massively parallel sequencing of DNA in maternal plasma | Q47960026 | ||
Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus | Q56937251 | ||
Presence of fetal DNA in maternal plasma and serum | Q57075132 | ||
Prenatal DNA diagnosis of a single-gene disorder from maternal plasma | Q73074402 | ||
P433 | issue | 50 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | E8159-E8168 | |
P577 | publication date | 2016-10-31 | |
P1433 | published in | Proceedings of the National Academy of Sciences of the United States of America | Q1146531 |
P1476 | title | Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends | |
P478 | volume | 113 |
Q49493791 | 50 Years Ago in The Journal of Pediatrics: The Antepartum Diagnosis of Genetic Diseases |
Q89948847 | A novel NGS library preparation method to characterize native termini of fragmented DNA |
Q52683780 | Accuracy and reproducibility of fetal-fraction measurement using relative quantitation at polymorphic loci with microarray. |
Q64120626 | An efficient method for noninvasive prenatal diagnosis of fetal trisomy 13, trisomy 18, and trisomy 21 |
Q91554346 | Analysis of fragment size distribution of cell-free DNA: A potential non-invasive marker to monitor graft damage in living-related liver transplantation for inborn errors of metabolism |
Q90467246 | Automated size selection for short cell-free DNA fragments enriches for circulating tumor DNA and improves error correction during next generation sequencing |
Q46298836 | BSviewer: a genotype-preserving, nucleotide-level visualizer for bisulfite sequencing data |
Q64077212 | Bayesian-based noninvasive prenatal diagnosis of single-gene disorders |
Q37691066 | Bioinformatics Approaches for Fetal DNA Fraction Estimation in Noninvasive Prenatal Testing |
Q38977149 | COFFEE: control-free noninvasive fetal chromosomal examination using maternal plasma DNA. |
Q89521179 | Clonal hematopoiesis: background player in plasma cell-free DNA variants |
Q57049718 | Duplex Proximity Sequencing (Pro-Seq): A method to improve DNA sequencing accuracy without the cost of molecular barcoding redundancy |
Q61799424 | Epigenetic Biomarkers in Cell-Free DNA and Applications in Liquid Biopsy |
Q92756215 | Exosomes-Associated DNA-New Marker in Pregnancy Complications? |
Q92555522 | Genomic Medicine-Progress, Pitfalls, and Promise |
Q102061414 | High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening |
Q98188951 | Hypomethylation in HBV integration regions aids non-invasive surveillance to hepatocellular carcinoma by low-pass genome-wide bisulfite sequencing |
Q38613379 | Integrative single-cell and cell-free plasma RNA transcriptomics elucidates placental cellular dynamics |
Q47130174 | Measurement of fetal fraction in cell-free DNA from maternal plasma using a panel of insertion/deletion polymorphisms |
Q101049747 | Non-invasive prenatal testing for management of haemolytic disease of the fetus and newborn induced by maternal alloimmunisation |
Q38793722 | Noninvasive detection of F8 int22h-related inversions and sequence variants in maternal plasma of hemophilia carriers |
Q58107400 | Noninvasive paternal exclusion testing for cystic fibrosis in the first five to eight weeks of gestation |
Q37515099 | Noninvasive prenatal testing to analyze the fetal genome |
Q64077209 | Orientation-aware plasma cell-free DNA fragmentation analysis in open chromatin regions informs tissue of origin |
Q89940349 | Potential of Next-Generation Sequencing in Noninvasive Fetal Molecular Blood Group Genotyping |
Q58106907 | Preferred end coordinates and somatic variants as signatures of circulating tumor DNA associated with hepatocellular carcinoma |
Q47153039 | Prenatal maternal plasma DNA screening for cystic fibrosis: A computer modelling study of screening performance |
Q50456746 | Secrets of life in a spoonful of blood. |
Q47900162 | Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping |
Q92063441 | Size profile of cell-free DNA: A beacon guiding the practice and innovation of clinical testing |
Q55209454 | Size-tagged preferred ends in maternal plasma DNA shed light on the production mechanism and show utility in noninvasive prenatal testing. |
Q90186660 | Targeted Sequencing of Genomic Repeat Regions Detects Circulating Cell-free Echinococcus DNA |
Q96816256 | Tracking placental development in health and disease |
Q47191639 | cfDNA screening and diagnosis of monogenic disorders - where are we heading? |
Search more.