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The Centers for Mendelian Genomics (CMG) use genome-wide sequencing and other genomic approaches to discover the genetic basis underlying as many Mendelian traits as possible, and accelerate discoveries by disseminating the obtained knowledge and effective approaches, reaching out to individual investigators, and coordinating with other rare disease programs worldwide.

The currently funded CMG are: the 苹果ios加速器, the Broad Institute CMG, the 苹果网络加速器下载, and the Yale University CMG. Please direct inquiries about collaborations directly to the centers.

The CMGs contribute to the overall field of Mendelian genetics which has been responsible for many disease gene discoveries. For more information see the detailed Mendelian Traits by the Numbers report , list of phenotypes studied, and disease genes identified, by the CMGs and a listing of CMG presentations.

CMG Review Papers

2019: NEW http://www.nature.com/articles/s41436-018-0408-7

2015: http://www.ncbi.nlm.nih.gov/pubmed/26166479

人工智能的历史、现状和未来 - 求是网:2021-2-16 · 由于网络技术特别是互联网技术的发展，加速了人工智能的创新研究，促使人工智能技术进一步走向实用化。 1997年国际商业机器公司（简称IBM）深蓝超级计算机战胜了国际象棋世界冠军卡斯帕罗夫，2021年IBM提出“智慧地球”的概念。以上都是这 ...

2012: 人工智能倒逼，芯片架构变革迫在眉睫-评论解读-专题 ...:2021-11-27 · 本章讨论各种加速器的形式和实现，并探讨加速器变革下引发的行业深层次转变，并从2个维度给出详细的测算人工智能芯片的潜在空间首先我们必须描述人工智能对芯片的诉求，深度学习的目标是模仿人类神经网络感知外部世界的方法。

Learn more about the NHGRI Centers for Mendelian Genetics Program.

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人工智能技术拐点来临未来将如何发展-中国法院网 ...:2021-2-23 · 由于网络技术特别是互联网技术的发展，加速了人工智能的创新研究，促使人工智能技术进一步走向实用化。 1997年国际商业机器公司（简称IBM）深蓝超级计算机战胜了国际象棋世界冠军卡斯帕罗夫，2021年IBM提出“智慧地球”的概念。以上都是这 ...

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Batzir et al. (2020) Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 41(3):641-654.

Gunning et al. (2020) Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. Am J Hum Genet. 2020 106(2):272-279.

Chen, W et al. (2020) "TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease." Human Mutation. 2020;41:182–195

Bahrambeigi V et al. (2019) "Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants." Genome Med. 2019 Dec 9;11:80. doi: 10.1186/s13073-019-0676-0.

Hansen, AW et al. (2019) "A Genocentric Approach to Discovery of Mendelian Disorders." Am J Hum Genet. 2019 Oct 16. Epub ahead of print.

Bamshad, M et al. (2019) "Mendelian Gene Discovery: Fast and Furious with No End in Sight." Am J Hum Genet. 2019 Sep 5;105(3):448-455.

Liu, P 苹果ios加速器 (2019) "Reanalysis of Clinical Exome Sequencing Data." N Engl J Med. 2019 Jun 20;380(25):2478-2480.

网络加速器苹果免费版et al. (2019) "Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases." Genome Med. 2019 May 17;11(1):30.

Friedman, Smith 苹果网络加速器下载. (2019) "Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy." Nat Commun. 2019 Feb 12;10(1):707

Beck, Carvalho et al. (2019) "Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2" Cell 176(6):1310-1324. BCM Press Release UConn Press Release