Genome sequencing as a first-line diagnostic test for hospitalized infants.
Genome sequencing as a first-line diagnostic test for hospitalized infants.
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DOI：
10.1016/j.gim.2021.11.020
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发表时间：
2022-04
期刊：
影响因子：
--
通讯作者：
Cooper GM
中科院分区：
文献类型：
--
作者：
Bowling KM;Thompson ML;Finnila CR;Hiatt SM;Latner DR;Amaral MD;Lawlor JMJ;East KM;Cochran ME;Greve V;Kelley WV;Gray DE;Felker SA;Meddaugh H;Cannon A;Luedecke A;Jackson KE;Hendon LG;Janani HM;Johnston M;Merin LA;Deans SL;Tuura C;Williams H;Laborde K;Neu MB;Patrick-Esteve J;Hurst ACE;Kandasamy J;Carlo W;Brothers KB;Kirmse BM;Savich R;Superneau D;Spedale SB;Knight SJ;Barsh GS;Korf BR;Cooper GM
SouthSeq是一项转化研究，对有遗传疾病症状的婴儿进行基因组测序（GS）。招募目标是种族/少数民族和农村，美国东南部医疗服务不足的地区，这些地区在基因组医学研究中历史上代表性不足。对367名婴儿进行GS和分析，以检测疾病因果变异，同时进行标准护理评估和测试。在30%的婴儿中确定了明确的诊断（DD）或可能的诊断（LD）基因发现，14%的结果不确定。只有43%的DD/LD发现是通过同步临床基因检测确定的，这表明GS检测更适合获得早期基因诊断。我们还确定了与DD/LD发现可能性相关的表型，如颅面、眼科、听觉、皮肤和头发异常。我们没有观察到种族/民族之间诊断率的任何差异。我们描述了迄今为止最大的GS患病婴儿队列之一，丰富了非洲裔美国人和农村患者。我们的研究结果证明了GS的实用性，因为它提供了在生命早期检测临床相关的遗传变异，而不是通过目前的临床基因检测发现的，特别是对于表现出某些表型特征的婴儿。
SouthSeq is a translational research study that performed genome sequencing (GS) for infants with symptoms suggestive of a genetic disorder. Recruitment targeted racial/ethnic minorities and rural, medically underserved areas in the Southeastern US that are historically under-represented in genomic medicine research. GS and analysis were performed for 367 infants to detect disease-causal variation concurrent with standard of care evaluation and testing. Definitive diagnostic (DD) or likely diagnostic (LD) genetic findings were identified in 30% of infants and 14% harbored an uncertain result. Only 43% of DD/LD findings were identified via concurrent clinical genetic testing suggesting that GS testing is better for obtaining early genetic diagnosis. We also identified phenotypes that correlate with the likelihood of receiving a DD/LD finding, such as craniofacial, ophthalmologic, auditory, skin, and hair abnormalities. We did not observe any differences in diagnostic rates between racial/ethnic groups. We describe one of the largest-to-date GS cohorts of ill infants, enriched for African American and rural patients. Our results demonstrate the utility of GS as it provides early in life detection of clinically relevant genetic variation not identified via current clinical genetic testing, particularly for infants exhibiting certain phenotypic features.
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影响因子：
3.7
作者：
Kendig, Katherine, I;Baheti, Saurabh;Mainzer, Liudmila S.
通讯作者：
Mainzer, Liudmila S.
影响因子：
14.9
作者：
Köhler S;Gargano M;Matentzoglu N;Carmody LC;Lewis-Smith D;Vasilevsky NA;Danis D;Balagura G;Baynam G;Brower AM;Callahan TJ;Chute CG;Est JL;Galer PD;Ganesan S;Griese M;Haimel M;Pazmandi J;Hanauer M;Harris NL;Hartnett MJ;Hastreiter M;Hauck F;He Y;Jeske T;Kearney H;Kindle G;Klein C;Knoflach K;Krause R;Lagorce D;McMurry JA;Miller JA;Munoz-Torres MC;Peters RL;Rapp CK;Rath AM;Rind SA;Rosenberg AZ;Segal MM;Seidel MG;Smedley D;Talmy T;Thomas Y;Wiafe SA;Xian J;Yüksel Z;Helbig I;Mungall CJ;Haendel MA;Robinson PN
通讯作者：
Robinson PN
DOI：
10.1093/bioinformatics/bts378
发表时间：
2012-09-15
期刊：
Bioinformatics (Oxford, England)
影响因子：
--
作者：
Rausch T;Zichner T;Schlattl A;Stütz AM;Benes V;Korbel JO
通讯作者：
Korbel JO
影响因子：
8.8
作者：
Riggs, Erin Rooney;Andersen, Erica F.;Martin, Christa Lese
通讯作者：
Martin, Christa Lese
影响因子：
8.8
作者：
Kalia, Sarah S.;Adelman, Kathy;Miller, David T.
通讯作者：
Miller, David T.