The role of exome sequencing in newborn screening for inborn errors of metabolism.
The role of exome sequencing in newborn screening for inborn errors of metabolism.
复制标题
外显子组测序在新生儿筛查中的作用，以造成代谢的天生误差。
DOI：
10.1038/s41591-020-0966-5
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发表时间：
2020-09
期刊：
影响因子：
82.9
通讯作者：
Brenner SE
中科院分区：
文献类型：
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作者：
Adhikari AN;Gallagher RC;Wang Y;Currier RJ;Amatuni G;Bassaganyas L;Chen F;Kundu K;Kvale M;Mooney SD;Nussbaum RL;Randi SS;Sanford J;Shieh JT;Srinivasan R;Sunderam U;Tang H;Vaka D;Zou Y;Koenig BA;Kwok PY;Risch N;Puck JM;Brenner SE
公共卫生新生儿筛查（NBS）计划提供了人口规模的罕见，可治疗的条件，需要紧急干预的确认。串联质谱法（MS/MS）目前用于筛查新生儿是否患有一系列罕见的先天性代谢异常（IEM）。NBSeq项目评估了全外显子组测序（WES）作为NBS的创新方法。我们获得了存档的残留干血斑（DBS）和几乎所有IEM病例的数据，这些病例来自2005年中期至2013年期间出生于加州的450万婴儿，以及一些MS/MS筛查阳性但在随访检测中未受影响的婴儿。WES的总体灵敏度为88%，特异性为98.4%，而MS/MS分别为99.0%和99.8%，尽管个体IEM的有效性不同。因此，单独的WES不够敏感或特异，不能作为大多数NBS IEM的主要筛选。然而，作为MS/MS筛查异常婴儿的二次检测，WES可以减少假阳性结果，促进及时解决病例，在某些情况下甚至可以提出比最初获得的诊断更合适或更具体的诊断。这项研究代表了迄今为止对整个受IEM影响病例人群进行的最大规模的测序工作，可以公正地评估WES作为人群筛查工具的当前能力。
Public health newborn screening (NBS) programs provide population-scale ascertainment of rare, treatable conditions that require urgent intervention. Tandem mass spectrometry (MS/MS) is currently used to screen newborns for a panel of rare inborn errors of metabolism (IEMs). The NBSeq project evaluated whole exome sequencing (WES) as an innovative methodology for NBS. We obtained archived residual dried blood spots (DBS) and data for nearly all IEM cases from the 4.5 million infants born in California between mid-2005 and 2013, and from some infants who screened positive by MS/MS, but were unaffected upon follow-up testing. WES had an overall sensitivity of 88% and specificity of 98.4%, compared to 99.0% and 99.8%, respectively for MS/MS, although effectiveness varied among individual IEMs. Thus, WES alone was insufficiently sensitive or specific to be a primary screen for most NBS IEMs. However, as a secondary test for infants with abnormal MS/MS screens, WES could reduce false positive results, facilitate timely case resolution, and in some instances even suggest a more appropriate or specific diagnosis than that initially obtained. This study represents the largest-to-date sequencing effort of an entire population of IEM-affected cases, allowing unbiased assessment of current capabilities of WES as a tool for population screening.
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影响因子：
4.3
作者：
Corvelo A;Hallegger M;Smith CW;Eyras E
通讯作者：
Eyras E
影响因子：
7
作者：
Harrow J;Frankish A;Gonzalez JM;Tapanari E;Diekhans M;Kokocinski F;Aken BL;Barrell D;Zadissa A;Searle S;Barnes I;Bignell A;Boychenko V;Hunt T;Kay M;Mukherjee G;Rajan J;Despacio-Reyes G;Saunders G;Steward C;Harte R;Lin M;Howald C;Tanzer A;Derrien T;Chrast J;Walters N;Balasubramanian S;Pei B;Tress M;Rodriguez JM;Ezkurdia I;van Baren J;Brent M;Haussler D;Kellis M;Valencia A;Reymond A;Gerstein M;Guigó R;Hubbard TJ
通讯作者：
Hubbard TJ
影响因子：
4.8
作者：
Bergeron, A;D'Astous, M;Tanguay, RM
通讯作者：
Tanguay, RM
DOI：
10.1007/978-1-4939-6472-7_13
发表时间：
2017-01-01
期刊：
IN VITRO MUTAGENESIS: METHODS AND PROTOCOLS
影响因子：
--
作者：
Jian, Xueqiu;Liu, Xiaoming
通讯作者：
Liu, Xiaoming
使用下一代 DNA 测序数据进行变异发现和基因分型的框架。
影响因子：
30.8
作者：
通讯作者：
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