sequencing analysis (Broad Institute Inc)
90
Structured Review
Broad Institute Inc
sequencing analysis
Sequencing Analysis, supplied by Broad Institute Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/sequencing+and+data+analysis/sequencing+and+analysis/pmc06545377-508-0-6
Average 90 stars, based on 1 article reviews
Sequencing Analysis, supplied by Broad Institute Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/sequencing+and+data+analysis/sequencing+and+analysis/pmc06545377-508-0-6
Average 90 stars, based on 1 article reviews
sequencing analysis - by Bioz Stars,
2026-11
90/100 stars
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other:Article Title: Loss-of-function of the Zinc Finger Homeobox 4 ( ZFHX4 ) gene underlies a neurodevelopmental disorder Article Snippet: Sequencing and analysis of probands 35 and 45 were provided by the Broad Institute of MIT and Harvard Center for Mendelian Genomics (Broad CMG) and were funded by the National Human Genome Research Institute (NHGRI) grants UM1HG008900 (with additional support from the National Eye Institute, and the National Heart, Lung and Blood Institute), U01HG0011755, R21HG012397, and R01HG009141, and in part by the Chan Zuckerberg Initiative Donor Advised Fund at the Silicon Valley Community Foundation (funder DOI 10.13039/100014989) grants 2019 199278, 2020 224274, 2022 316726 ( https://doi.org/10.37921/236582yuakxy ). Article Title: Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation. Article Snippet: Sequencing and analysis were provided by the Broad Institute of MIT and Harvard Center for Mendelian Genomics (Broad CMG) and was funded by the National Human Genome Research Institute, the National Eye Institute, the National Heart, Lung and Blood Institute and grant UM1HG008900 to Daniel MacArthur and Heidi Rehm. Article Title: Differential inclusion of NEB exons 143 and 144 provides insight into NEB -related myopathy variant interpretation and disease manifestation Article Snippet: Sequencing and analysis were provided by the Broad Institute of MIT and Harvard Center for Mendelian Genomics (Broad CMG) and was funded by the National Human Genome Research Institute, the National Eye Institute, the National Heart, Lung, and Blood Institute and grant UM1HG008900to D.M. and H.R. Article Title: BCS1L-Associated Disease: 5'-UTR Variant Shifts the Phenotype Towards Axonal Neuropathy. Article Snippet: Sequencing and analysis were provided by the Broad Institute of MIT and Harvard Center for Mendelian Genomics (Broad CMG) and were funded by the National Human Genome Research Institute grants UM1 HG008900 (with additional support from the National Eye Institute, and the National Heart, Lung and Blood Institute), and R01 HG009141. Article Title: Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation. Article Snippet: Sequencing and analysis of Family A were provided by the Broad Institute of MIT and Harvard Center for Mendelian Genomics (Broad CMG) and were funded by the National Human Genome Research Institute grants UM1 HG00890 (with additional support from the National Eye Institute, and the National Heart, Lung and Blood Institute), U01 HG0011755, and R01 HG00914 and in part by CZI grant DAF2019-199278 and grant DOI 10.37921/236582yuakxy from the Chan Zuckerberg Initiative DAF, an advised fund of Silicon Valley Community Foundation (funder DOI 10.13039/ 100014989). Article Title: Neurogenic arthrogryposis, hypotonia, dysmorphic features plus malformation of cortical development further expands the ARL6IP1 loss-of-function phenotype. Article Snippet: Biallelic variants in ARL6IP1 are associated with a rare, complicated form of progressive hereditary spastic paraplegia.. Among the few cases reported thus far, two distinct phenotypic clusters with upper and lower motor neuron pathology and varying severities have emerged.. Here, we describe a proband who presented with decreased fetal movements, intrauterine growth retardation, arthrogryposis multiplex congenita (AMC), dysmorphic features, weakness and hypotonia. Article Title: AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions. Article Snippet: For individual 20, sequencing and analysis were provided by the Broad Institute of MIT and Harvard Center for Mendelian Genomics (Broad CMG) and were funded by the National Human Genome Research Institute (NHGRI) grants U01HG011755 and R01HG009141, and in part by the Chan Zuckerberg Initiative Donor- Advised Fund at the Silicon Valley Community Foundation (funder DOI: https:// doi. org/ 10. Article Title: HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models. Article Snippet: This work was supported by a grant from the Groupama Foundation “Vaincre les maladies rares.” For individual 1, sequencing and analysis were provided by the Broad Institute of MIT and Harvard Center for Mendelian Genomics (Broad CMG) and were funded by the National Human Genome Research Institute grants UM1 HG008900 (with additional support from the National Eye Institute, and the National Heart, Lung, and Blood Institute), U01HG011755, and R01 HG009141, and in part by grant number 2020-224274 from the Chan Zuckerberg Initiative DAF, an advised fund of Silicon Valley Community Foundation. |
