187 related articles for article (PubMed ID: 34906245)
1. Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.
Avramović V; Frederiksen SD; Brkić M; Tarailo-Graovac M
Hum Genomics; 2021 Dec; 15(1):71. PubMed ID: 34906245
[TBL] [Abstract][Full Text] [Related]
2. Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
Carlston CM; O'Donnell-Luria AH; Underhill HR; Cummings BB; Weisburd B; Minikel EV; Birnbaum DP; ; Tvrdik T; MacArthur DG; Mao R
Hum Mutat; 2017 May; 38(5):517-523. PubMed ID: 28229513
[TBL] [Abstract][Full Text] [Related]
3. Li-Fraumeni syndrome: not a straightforward diagnosis anymore-the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis.
Batalini F; Peacock EG; Stobie L; Robertson A; Garber J; Weitzel JN; Tung NM
Breast Cancer Res; 2019 Sep; 21(1):107. PubMed ID: 31533767
[TBL] [Abstract][Full Text] [Related]
4. A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
Cao Y; Tokita MJ; Chen ES; Ghosh R; Chen T; Feng Y; Gorman E; Gibellini F; Ward PA; Braxton A; Wang X; Meng L; Xiao R; Bi W; Xia F; Eng CM; Yang Y; Gambin T; Shaw C; Liu P; Stankiewicz P
Genome Med; 2019 Jul; 11(1):48. PubMed ID: 31349857
[TBL] [Abstract][Full Text] [Related]
5. Interpreting variants in genes affected by clonal hematopoiesis in population data.
Gudmundsson S; Carlston CM; O'Donnell-Luria A
Hum Genet; 2024 Apr; 143(4):545-549. PubMed ID: 36739343
[TBL] [Abstract][Full Text] [Related]
6. Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.
Truty R; Rojahn S; Ouyang K; Kautzer C; Kennemer M; Pineda-Alvarez D; Johnson B; Stafford A; Basel-Salmon L; Saitta S; Slavotinek A; Chandrasekharappa SC; Suarez CJ; Burnett L; Nussbaum RL; Aradhya S
Am J Hum Genet; 2023 Apr; 110(4):551-564. PubMed ID: 36933558
[TBL] [Abstract][Full Text] [Related]
7. Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.
Kobayashi Y; Yang S; Nykamp K; Garcia J; Lincoln SE; Topper SE
Genome Med; 2017 Feb; 9(1):13. PubMed ID: 28166811
[TBL] [Abstract][Full Text] [Related]
8. Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.
Crawford BD; Gillies CE; Robertson CC; Kretzler M; Otto EA; Vega-Warner V; Sampson MG
Pediatr Nephrol; 2017 Mar; 32(3):467-476. PubMed ID: 27766458
[TBL] [Abstract][Full Text] [Related]
9. Assessment of the gene mosaicism burden in blood and its implications for immune disorders.
Solís-Moruno M; Mensa-Vilaró A; Batlle-Masó L; Lobón I; Bonet N; Marquès-Bonet T; Aróstegui JI; Casals F
Sci Rep; 2021 Jun; 11(1):12940. PubMed ID: 34155260
[TBL] [Abstract][Full Text] [Related]
10. Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis.
Saito S; Saito Y; Sato S; Aoki S; Fujita H; Ito Y; Ono N; Funakoshi T; Kawai T; Suzuki H; Sasaki T; Tanaka T; Inoie M; Hata K; Kataoka K; Kosaki K; Amagai M; Nakabayashi K; Kubo A
Am J Hum Genet; 2024 May; 111(5):896-912. PubMed ID: 38653249
[TBL] [Abstract][Full Text] [Related]
11. Variant interpretation using population databases: Lessons from gnomAD.
Gudmundsson S; Singer-Berk M; Watts NA; Phu W; Goodrich JK; Solomonson M; ; Rehm HL; MacArthur DG; O'Donnell-Luria A
Hum Mutat; 2022 Aug; 43(8):1012-1030. PubMed ID: 34859531
[TBL] [Abstract][Full Text] [Related]
12. Early somatic mosaicism is a rare cause of long-QT syndrome.
Priest JR; Gawad C; Kahlig KM; Yu JK; O'Hara T; Boyle PM; Rajamani S; Clark MJ; Garcia ST; Ceresnak S; Harris J; Boyle S; Dewey FE; Malloy-Walton L; Dunn K; Grove M; Perez MV; Neff NF; Chen R; Maeda K; Dubin A; Belardinelli L; West J; Antolik C; Macaya D; Quertermous T; Trayanova NA; Quake SR; Ashley EA
Proc Natl Acad Sci U S A; 2016 Oct; 113(41):11555-11560. PubMed ID: 27681629
[TBL] [Abstract][Full Text] [Related]
13. Deep sequencing of atrial fibrillation patients with mitral valve regurgitation shows no evidence of mosaicism but reveals novel rare germline variants.
Gregers E; Ahlberg G; Christensen T; Jabbari J; Larsen KO; Herfelt CB; Henningsen KM; Andreasen L; Thiis JJ; Lund J; Holme S; Haunsø S; Bentzen BH; Schmitt N; Svendsen JH; Olesen MS
Heart Rhythm; 2017 Oct; 14(10):1531-1538. PubMed ID: 28549997
[TBL] [Abstract][Full Text] [Related]
14. A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases.
Greene D; ; Richardson S; Turro E
Am J Hum Genet; 2017 Jul; 101(1):104-114. PubMed ID: 28669401
[TBL] [Abstract][Full Text] [Related]
15. Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest.
Riera-Escamilla A; Enguita-Marruedo A; Moreno-Mendoza D; Chianese C; Sleddens-Linkels E; Contini E; Benelli M; Natali A; Colpi GM; Ruiz-Castañé E; Maggi M; Baarends WM; Krausz C
Hum Reprod; 2019 Jun; 34(6):978-988. PubMed ID: 31125047
[TBL] [Abstract][Full Text] [Related]
16. Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.
Redwood A; Douzgou S; Waller S; Ramsden S; Roberts A; Bonin H; Lloyd IC; Ashworth J; Black GCM; Clayton-Smith J
Eur J Med Genet; 2020 Feb; 63(2):103658. PubMed ID: 31048080
[TBL] [Abstract][Full Text] [Related]
17. Allele frequency of pathogenic variants related to adult-onset Mendelian diseases.
Li X; Jin Y; Yin Y
Clin Genet; 2019 Sep; 96(3):226-235. PubMed ID: 31119731
[TBL] [Abstract][Full Text] [Related]
18. Origins and characterization of variants shared between databases of somatic and germline human mutations.
Meyerson W; Leisman J; Navarro FCP; Gerstein M
BMC Bioinformatics; 2020 Jun; 21(1):227. PubMed ID: 32498674
[TBL] [Abstract][Full Text] [Related]
19. ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden.
Sharo AG; Zou Y; Adhikari AN; Brenner SE
Genome Med; 2023 Jul; 15(1):51. PubMed ID: 37443081
[TBL] [Abstract][Full Text] [Related]
20. Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic variants.
Hanany M; Sharon D
J Med Genet; 2019 Aug; 56(8):536-542. PubMed ID: 30910914
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]