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Items: 1 to 20 of 1488


Evaluating the quality of the 1000 genomes project data.

Belsare S, Levy-Sakin M, Mostovoy Y, Durinck S, Chaudhuri S, Xiao M, Peterson AS, Kwok PY, Seshagiri S, Wall JD.

BMC Genomics. 2019 Aug 16;20(1):620. doi: 10.1186/s12864-019-5957-x.


Identification of rs11615992 as a novel regulatory SNP for human P2RX7 by allele-specific expression.

Peng T, Zhong L, Gao J, Wan Z, Fu WP, Sun C.

Mol Genet Genomics. 2019 Aug 13. doi: 10.1007/s00438-019-01598-0. [Epub ahead of print]


Genetic risk association of CDKN1A and RET gene SNPs with medullary thyroid carcinoma: Results from the largest MTC cohort and meta-analysis.

Mishra V, Kowtal P, Rane P, Sarin R.

Cancer Med. 2019 Aug 13. doi: 10.1002/cam4.2443. [Epub ahead of print]


Haplotype-aware graph indexes.

Sirén J, Garrison E, Novak AM, Paten B, Durbin R.

Bioinformatics. 2019 Jul 26. pii: btz575. doi: 10.1093/bioinformatics/btz575. [Epub ahead of print]


Evolutionary history of disease-susceptibility loci identified in longitudinal exome-wide association studies.

Yasukochi Y, Sakuma J, Takeuchi I, Kato K, Oguri M, Fujimaki T, Horibe H, Yamada Y.

Mol Genet Genomic Med. 2019 Aug 11:e925. doi: 10.1002/mgg3.925. [Epub ahead of print]


A gene based approach to test genetic association based on an optimally weighted combination of multiple traits.

Zhang J, Sha Q, Liu G, Wang X.

PLoS One. 2019 Aug 9;14(8):e0220914. doi: 10.1371/journal.pone.0220914. eCollection 2019.


Shared genomic segments in high-risk multigenerational pedigrees with gastroschisis.

Feldkamp ML, Krikov S, Gardner J, Madsen MJ, Darlington T, Sargent R, Camp NJ.

Birth Defects Res. 2019 Aug 5. doi: 10.1002/bdr2.1567. [Epub ahead of print]


Beyond sequencing: re-visiting annotations for PJL as a test case.

Khan W, Ghani A, Azmi MB, Razzak SA.

BMC Res Notes. 2019 Jul 31;12(1):467. doi: 10.1186/s13104-019-4508-5.


Variation in a Left Ventricle-Specific Hand1 Enhancer Impairs GATA Transcription Factor Binding and Disrupts Conduction System Development and Function.

Vincentz JW, Firulli BA, Toolan KP, Arking DE, Sotoodehnia N, Wan J, Chen PS, de Gier-de Vries C, Christoffels VM, Rubart-von der Lohe M, Firulli AB.

Circ Res. 2019 Aug 1. doi: 10.1161/CIRCRESAHA.119.315313. [Epub ahead of print]


Analysis of TP53 gene in uterine myomas: No mutations but P72R polymorphism is associated with myoma development.

Altinkaya SO, Avcioglu SN, Sezer SD, Ceylaner S.

J Obstet Gynaecol Res. 2019 Jul 29. doi: 10.1111/jog.14071. [Epub ahead of print]


Somatic variants of potential clinical significance in the tumors of BRCA phenocopies.

Buckingham L, Mitchell R, Maienschein-Cline M, Green S, Hu VH, Cobleigh M, Rotmensch J, Burgess K, Usha L.

Hered Cancer Clin Pract. 2019 Jul 16;17:21. doi: 10.1186/s13053-019-0117-5. eCollection 2019.


Whole-genome sequencing reveals high complexity of copy number variation at insecticide resistance loci in malaria mosquitoes.

Lucas ER, Miles A, Harding NJ, Clarkson CS, Lawniczak MKN, Kwiatkowski DP, Weetman D, Donnelly MJ; Anopheles gambiae 1000 Genomes Consortium.

Genome Res. 2019 Aug;29(8):1250-1261. doi: 10.1101/gr.245795.118. Epub 2019 Jul 25.


The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent.

Vijzelaar R, Snetselaar R, Clausen M, Mason AG, Rinsma M, Zegers M, Molleman N, Boschloo R, Yilmaz R, Kuilboer R, Lens S, Sulchan S, Schouten J.

PLoS One. 2019 Jul 24;14(7):e0220211. doi: 10.1371/journal.pone.0220211. eCollection 2019.


Revealing the pathogenic changes of PAH based on multiomics characteristics.

Zhang L, Chen S, Zeng X, Lin D, Li Y, Gui L, Lin MJ.

J Transl Med. 2019 Jul 22;17(1):231. doi: 10.1186/s12967-019-1981-5.


Pharmacogenomics Clinical Annotation Tool (PharmCAT).

Sangkuhl K, Whirl-Carrillo M, Whaley RM, Woon M, Lavertu A, Altman RB, Carter L, Verma A, Ritchie MD, Klein TE.

Clin Pharmacol Ther. 2019 Jul 15. doi: 10.1002/cpt.1568. [Epub ahead of print]


Forensic genealogy-A comparison of methods to infer distant relationships based on dense SNP data.

Kling D, Tillmar A.

Forensic Sci Int Genet. 2019 Jun 28;42:113-124. doi: 10.1016/j.fsigen.2019.06.019. [Epub ahead of print]


OMMA enables population-scale analysis of complex genomic features and phylogenomic relationships from nanochannel-based optical maps.

Leung AK, Liu MC, Li L, Lai YY, Chu C, Kwok PY, Ho PL, Yip KY, Chan TF.

Gigascience. 2019 Jul 1;8(7). pii: giz079. doi: 10.1093/gigascience/giz079.


Retroposed copies of RET gene: a somatically acquired event in medullary thyroid carcinoma.

Bim LV, Navarro FCP, Valente FOF, Lima-Junior JV, Delcelo R, Dias-da-Silva MR, Maciel RMB, Galante PAF, Cerutti JM.

BMC Med Genomics. 2019 Jul 9;12(1):104. doi: 10.1186/s12920-019-0552-1.


QTL-mapping and genomic prediction for bovine respiratory disease in U.S. Holsteins using sequence imputation and feature selection.

Hoff JL, Decker JE, Schnabel RD, Seabury CM, Neibergs HL, Taylor JF.

BMC Genomics. 2019 Jul 5;20(1):555. doi: 10.1186/s12864-019-5941-5.

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