Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot.
Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot.
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DOI：
10.1038/s10038-022-01051-y
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发表时间：
2022-10
影响因子：
3.5
通讯作者：
Talavera D
中科院分区：
文献类型：
--
作者：
Chelu A;Williams SG;Keavney BD;Talavera D
虽然参与法洛四联症发展的几个基因已被确定，但大多数患者没有遗传学诊断。低统计功效可能阻止了在逐基因调查分析中进一步鉴定致病基因。因此，可能需要更大的样本和/或新的分析方法。我们研究了功能相关基因组的联合分析是否可能是一种有用的替代方法。我们对全外显子组测序数据的重新分析确定了12组对法洛四联症的负担有极大贡献的基因。对这些群体的进一步分析表明，具有高影响变体的基因往往会相互作用。因此，我们的研究结果强烈表明，通过研究已知致病基因的蛋白质相互作用网络，可能会发现更多的候选基因。此外，我们的研究结果表明，功能相关基因的联合分析可以是一个有用的补充方法，经典的单基因分析。
Although several genes involved in the development of Tetralogy of Fallot have been identified, no genetic diagnosis is available for the majority of patients. Low statistical power may have prevented the identification of further causative genes in gene-by-gene survey analyses. Thus, bigger samples and/or novel analytic approaches may be necessary. We studied if a joint analysis of groups of functionally-related genes might be a useful alternative approach. Our reanalysis of whole-exome sequencing data identified 12 groups of genes which exceedingly contribute to the burden of Tetralogy of Fallot. Further analysis of those groups showed that genes with high-impact variants tend to interact with each other. Thus, our results strongly suggest that additional candidate genes may be found by studying the protein interaction network of known causative genes. Moreover, our results show that the joint analysis of functionally-related genes can be a useful complementary approach to classical single-gene analyses.
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影响因子：
14.9
作者：
Gene Ontology Consortium
通讯作者：
Gene Ontology Consortium
影响因子：
2.1
作者：
Tong, Dominic M. H.;Hernandez, Ryan D.
通讯作者：
Hernandez, Ryan D.
影响因子：
9.8
作者：
Li, Duanxiang;Parks, Sharie B.;Hershberger, Ray E.
通讯作者：
Hershberger, Ray E.
影响因子：
30.8
作者：
Jin SC;Homsy J;Zaidi S;Lu Q;Morton S;DePalma SR;Zeng X;Qi H;Chang W;Sierant MC;Hung WC;Haider S;Zhang J;Knight J;Bjornson RD;Castaldi C;Tikhonoa IR;Bilguvar K;Mane SM;Sanders SJ;Mital S;Russell MW;Gaynor JW;Deanfield J;Giardini A;Porter GA Jr;Srivastava D;Lo CW;Shen Y;Watkins WS;Yandell M;Yost HJ;Tristani-Firouzi M;Newburger JW;Roberts AE;Kim R;Zhao H;Kaltman JR;Goldmuntz E;Chung WK;Seidman JG;Gelb BD;Seidman CE;Lifton RP;Brueckner M
通讯作者：
Brueckner M
DOI：
10.1038/s41436-021-01212-y
发表时间：
2021-10
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Škorić-Milosavljević D;Lahrouchi N;Bosada FM;Dombrowsky G;Williams SG;Lesurf R;Tjong FVY;Walsh R;El Bouchikhi I;Breckpot J;Audain E;Ilgun A;Beekman L;Ratbi I;Strong A;Muenke M;Heide S;Muir AM;Hababa M;Cross L;Zhou D;Pastinen T;German Competence Network for Congenital Heart Defects;Zackai E;Atmani S;Ouldim K;Adadi N;Steindl K;Rauch A;Brook D;Wilsdon A;Kuipers I;Blom NA;Mulder BJ;Mefford HC;Keren B;Joset P;Kruszka P;Thiffault I;Sheppard SE;Roberts A;Lodder EM;Keavney BD;Clur SB;Mital S;Hitz MP;Christoffels VM;Postma AV;Bezzina CR
通讯作者：
Bezzina CR