These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 Genomes Project. Seaby EG; Leggatt G; Cheng G; Thomas NS; Ashton JJ; Stafford I; ; Baralle D; Rehm HL; O'Donnell-Luria A; Ennis S medRxiv; 2023 Mar; ():. PubMed ID: 37034701 [TBL] [Abstract][Full Text] [Related]
4. Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing. Ramos E; Levinson BT; Chasnoff S; Hughes A; Young AL; Thornton K; Li A; Vallania FL; Province M; Druley TE BMC Genomics; 2012 Dec; 13():683. PubMed ID: 23216810 [TBL] [Abstract][Full Text] [Related]
5. Variant callers for next-generation sequencing data: a comparison study. Liu X; Han S; Wang Z; Gelernter J; Yang BZ PLoS One; 2013; 8(9):e75619. PubMed ID: 24086590 [TBL] [Abstract][Full Text] [Related]
6. Consensus Genotyper for Exome Sequencing (CGES): improving the quality of exome variant genotypes. Trubetskoy V; Rodriguez A; Dave U; Campbell N; Crawford EL; Cook EH; Sutcliffe JS; Foster I; Madduri R; Cox NJ; Davis LK Bioinformatics; 2015 Jan; 31(2):187-93. PubMed ID: 25270638 [TBL] [Abstract][Full Text] [Related]
7. Impact of variant-level batch effects on identification of genetic risk factors in large sequencing studies. Wickland DP; Ren Y; Sinnwell JP; Reddy JS; Pottier C; Sarangi V; Carrasquillo MM; Ross OA; Younkin SG; Ertekin-Taner N; Rademakers R; Hudson ME; Mainzer LS; Biernacka JM; Asmann YW PLoS One; 2021; 16(4):e0249305. PubMed ID: 33861770 [TBL] [Abstract][Full Text] [Related]
9. Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients. Lim EC; Brett M; Lai AH; Lee SP; Tan ES; Jamuar SS; Ng IS; Tan EC Hum Genomics; 2015 Dec; 9():33. PubMed ID: 26666243 [TBL] [Abstract][Full Text] [Related]
10. FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets. Pope BJ; Nguyen-Dumont T; Odefrey F; Hammet F; Bell R; Tao K; Tavtigian SV; Goldgar DE; Lonie A; Southey MC; Park DJ BMC Bioinformatics; 2013 Feb; 14():65. PubMed ID: 23441864 [TBL] [Abstract][Full Text] [Related]
11. A unified approach for allele frequency estimation, SNP detection and association studies based on pooled sequencing data using EM algorithms. Chen Q; Sun F BMC Genomics; 2013; 14 Suppl 1(Suppl 1):S1. PubMed ID: 23369070 [TBL] [Abstract][Full Text] [Related]
12. Validation and assessment of variant calling pipelines for next-generation sequencing. Pirooznia M; Kramer M; Parla J; Goes FS; Potash JB; McCombie WR; Zandi PP Hum Genomics; 2014 Jul; 8(1):14. PubMed ID: 25078893 [TBL] [Abstract][Full Text] [Related]
13. Detailed simulation of cancer exome sequencing data reveals differences and common limitations of variant callers. Hofmann AL; Behr J; Singer J; Kuipers J; Beisel C; Schraml P; Moch H; Beerenwinkel N BMC Bioinformatics; 2017 Jan; 18(1):8. PubMed ID: 28049408 [TBL] [Abstract][Full Text] [Related]
14. PhredEM: a phred-score-informed genotype-calling approach for next-generation sequencing studies. Liao P; Satten GA; Hu YJ Genet Epidemiol; 2017 Jul; 41(5):375-387. PubMed ID: 28560825 [TBL] [Abstract][Full Text] [Related]
15. Diagnosis of a Single-Nucleotide Variant in Whole-Exome Sequencing Data for Patients With Inherited Diseases: Machine Learning Study Using Artificial Intelligence Variant Prioritization. Huang YS; Hsu C; Chune YC; Liao IC; Wang H; Lin YL; Hwu WL; Lee NC; Lai F JMIR Bioinform Biotechnol; 2022 Sep; 3(1):e37701. PubMed ID: 38935959 [TBL] [Abstract][Full Text] [Related]
16. SNPitty: An Intuitive Web Application for Interactive B-Allele Frequency and Copy Number Visualization of Next-Generation Sequencing Data. van Riet J; Krol NMG; Atmodimedjo PN; Brosens E; van IJcken WFJ; Jansen MPHM; Martens JWM; Looijenga LH; Jenster G; Dubbink HJ; Dinjens WNM; van de Werken HJG J Mol Diagn; 2018 Mar; 20(2):166-176. PubMed ID: 29305224 [TBL] [Abstract][Full Text] [Related]