BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

183 related articles for article (PubMed ID: 33772221)

  • 1. Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics.
    Dong Z; Chau MHK; Zhang Y; Yang Z; Shi M; Wah YM; Kwok YK; Leung TY; Morton CC; Choy KW
    Genet Med; 2021 Jul; 23(7):1225-1233. PubMed ID: 33772221
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Recurrent neural network for predicting absence of heterozygosity from low pass WGS with ultra-low depth.
    Tang F; Wang Z; Sun Y; Fan L; Yang Y; Guo X; Wang Y; Yan S; Qiao Z; Li Y; Jiang T; Wang X; Man J; Wang L; Wang S; Peng H; Peng Z; Xie X; Song L
    BMC Genomics; 2024 May; 25(1):470. PubMed ID: 38745141
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Low-Pass Genome Sequencing: Validation and Diagnostic Utility from 409 Clinical Cases of Low-Pass Genome Sequencing for the Detection of Copy Number Variants to Replace Constitutional Microarray.
    Chaubey A; Shenoy S; Mathur A; Ma Z; Valencia CA; Reddy Nallamilli BR; Szekeres E; Stansberry L; Liu R; Hegde MR
    J Mol Diagn; 2020 Jun; 22(6):823-840. PubMed ID: 32344035
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Absence of heterozygosity detected by single-nucleotide polymorphism array in prenatal diagnosis.
    Liu J; He Z; Lin S; Wang Y; Huang L; Huang X; Luo Y
    Ultrasound Obstet Gynecol; 2021 Feb; 57(2):314-323. PubMed ID: 31840905
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Evaluation and Analysis of Absence of Homozygosity (AOH) Using Chromosome Analysis by Medium Coverage Whole Genome Sequencing (CMA-seq) in Prenatal Diagnosis.
    Lü Y; Jiang Y; Zhou X; Hao N; Lü G; Guo X; Guo R; Liu W; Xu C; Chang J; Li M; Zhang H; Zhou J; Zhang WV; Qi Q
    Diagnostics (Basel); 2023 Feb; 13(3):. PubMed ID: 36766665
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Low-pass genome sequencing: a validated method in clinical cytogenetics.
    Chau MHK; Wang H; Lai Y; Zhang Y; Xu F; Tang Y; Wang Y; Chen Z; Leung TY; Chung JPW; Kwok YK; Chong SC; Choy KW; Zhu Y; Xiong L; Wei W; Dong Z
    Hum Genet; 2020 Nov; 139(11):1403-1415. PubMed ID: 32451733
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Detection of Mosaic Absence of Heterozygosity (AOH) Using Low-Pass Whole Genome Sequencing in Prenatal Diagnosis: A Preliminary Report.
    Lü Y; Jiang Y; Zhou X; Hao N; Xu C; Guo R; Chang J; Li M; Zhang H; Zhou J; Zhang WV; Qi Q
    Diagnostics (Basel); 2023 Sep; 13(18):. PubMed ID: 37761262
    [No Abstract]   [Full Text] [Related]  

  • 8. Single-nucleotide polymorphism-based chromosomal microarray analysis provides clues and insights into disease mechanisms.
    Daum H; Meiner V; Hacohen N; Zvi N; Eilat A; Drai-Hasid R; Yagel S; Zenvirt S; Frumkin A
    Ultrasound Obstet Gynecol; 2019 Nov; 54(5):655-660. PubMed ID: 30693591
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations.
    Sasaki K; Mishima H; Miura K; Yoshiura K
    Gene; 2013 Jan; 512(2):267-74. PubMed ID: 23111162
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Accurate detection of clinically relevant uniparental disomy from exome sequencing data.
    Yauy K; de Leeuw N; Yntema HG; Pfundt R; Gilissen C
    Genet Med; 2020 Apr; 22(4):803-808. PubMed ID: 31767986
    [TBL] [Abstract][Full Text] [Related]  

  • 11. SNP chromosome microarray genotyping for detection of uniparental disomy in the clinical diagnostic laboratory.
    Ngo C; Baluyot M; Bennetts B; Carmichael J; Clark A; Darmanian A; Gayagay T; Jones L; Nash B; Clark M; Jose N; Robinson S; St Heaps L; Wright D
    Pathology; 2023 Oct; 55(6):818-826. PubMed ID: 37414616
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Validation of low-pass genome sequencing for prenatal diagnosis.
    Mighton C; Noor A; Watkins N; Di Gioacchino V; Lerner-Ellis J; Wong A; Mukharryamova E; Anggala N; Chitayat D; Greenfeld E
    Prenat Diagn; 2024 Apr; 44(4):443-453. PubMed ID: 38279846
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting.
    Villela D; Costa SS; Vianna-Morgante AM; Krepischi ACV; Rosenberg C
    Eur J Med Genet; 2017 Dec; 60(12):667-674. PubMed ID: 28882788
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders.
    Cao Y; Luk HM; Zhang Y; Chau MHK; Xue S; Cheng SSW; Li AM; Chong JSC; Leung TY; Dong Z; Choy KW; Lo IFM
    Front Genet; 2022; 13():803088. PubMed ID: 35495136
    [No Abstract]   [Full Text] [Related]  

  • 15. Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
    Gonzales PR; Andersen EF; Brown TR; Horner VL; Horwitz J; Rehder CW; Rudy NL; Robin NH; Thorland EC; On Behalf Of The Acmg Laboratory Quality Assurance Committee
    Genet Med; 2022 Feb; 24(2):255-261. PubMed ID: 34906464
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
    Dharmadhikari AV; Ghosh R; Yuan B; Liu P; Dai H; Al Masri S; Scull J; Posey JE; Jiang AH; He W; Vetrini F; Braxton AA; Ward P; Chiang T; Qu C; Gu S; Shaw CA; Smith JL; Lalani S; Stankiewicz P; Cheung SW; Bacino CA; Patel A; Breman AM; Wang X; Meng L; Xiao R; Xia F; Muzny D; Gibbs RA; Beaudet AL; Eng CM; Lupski JR; Yang Y; Bi W
    Genome Med; 2019 May; 11(1):30. PubMed ID: 31101064
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Multiple methods used for type detection of uniparental disomy in paternity testing.
    Su H; Sun T; Chen M; Liu J; Wang X; Chen Y; Ren W; Zhang G; Yan J; Yun K
    Int J Legal Med; 2020 May; 134(3):885-893. PubMed ID: 31807870
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
    Carvalho CMB; Coban-Akdemir Z; Hijazi H; Yuan B; Pendleton M; Harrington E; Beaulaurier J; Juul S; Turner DJ; Kanchi RS; Jhangiani SN; Muzny DM; Gibbs RA; ; Stankiewicz P; Belmont JW; Shaw CA; Cheung SW; Hanchard NA; Sutton VR; Bader PI; Lupski JR
    Genome Med; 2019 Apr; 11(1):25. PubMed ID: 31014393
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A pilot investigation of low-pass genome sequencing identifying site-specific variation in chromosomal mosaicisms by a multiple site sampling approach in first-trimester miscarriages.
    Li Y; Chau MHK; Zhang YX; Zhao Y; Xue S; Li TC; Cao Y; Dong Z; Choy KW; Chung JPW
    Hum Reprod; 2023 Aug; 38(8):1628-1642. PubMed ID: 37218343
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Uniparental disomy of multiple chromosomes in two cases with a complex phenotype.
    Polonis K; Lopes JL; Cabral H; Babcock HE; Kline L; Ruiz KM; Schwartz S; Hasadsri L; Rowsey RA; Hoppman NL
    Am J Med Genet A; 2023 Jul; 191(7):1978-1983. PubMed ID: 37134191
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.