high-quality sequence data (Broad Institute Inc)
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High Quality Sequence Data, 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
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Average 90 stars, based on 1 article reviews
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Sequencing:Article Title: Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries Article Snippet: .. We thank the Broad Institute for generating Article Title: Alleviating misclassified germline variants in underrepresented populations: A strategy using popmax. Article Snippet: .. The authors thank the Broad Institute for generating Article Title: Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture Article Snippet: We thank the Broad Institute for generating high-quality sequence data supported by the NHLBI grant 3R01HL092577-06S1 to Dr. Patrick Ellinor. .. We thank the Broad Institute for generating Article Title: RYR1 mutations cause ophthalmoplegia, facial weakness, and malignant hyperthermia Article Snippet: .. We are grateful to the Broad Institute (funds from the National Human Genome Research Institute grant #U54 HG003067, Eric Lander, PI) and the Ocular Genomics Institute at Mass Eye and Ear Institute / Harvard Medical School for generating Article Title: A genome-wide spectrum of tandem repeat expansions in 338,963 humans. Article Snippet: In addition, the All of Us Research Programwould not be possible without the partnership of its participants.We thank the Broad Institute for generating high-quality sequence data supported by NHGRI funds (grant # U54 HG003067) with Eric Lander as the principal investigator. .. In addition, the All of Us Research Programwould not be possible without the partnership of its participants.We thank the Broad Institute for generating Article Title: HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1 −/− Mice Article Snippet: .. We are grateful to the Broad Institute for generating Article Title: Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination Article Snippet: .. We thank the patients and their families for their cooperation in these studies; Dr. Fawzi al-Hammouri and the physicians and staff of the Specialty Hospital, Amman, Jordan, for assisting with clinical care for Patients 1, 2, and 3; Dr. Momen al-Hadidi and the staff of the Forensic Medicine Department at Al-Basheer Government Hospital, Amman, Jordan, for performing the autopsy and obtaining the brain after the death of Patient 2; Drs. Daniel Metzger, Susan Ratzan, Meriel McEntagart, and Sandra Sirrs for patient referrals; Dr. J. Michael Andresen for performing the initial linkage analysis; Drs. Christopher Walsh and Timothy Yu at Boston Children’s Hospital for sharing data from the Middle Eastern control patients; Carlotta Fitch and Dr. Kathy Newell for assisting with the neuropathological analyses; Dr. Omar Abu Hijleh for providing the early endocrine history of Patients 1 and 2; the staff of the Massachusetts General Hospital (MGH) Clinical Research Center for assisting with clinical protocols; members of the MGH Reproductive Endocrine Unit; and Eric Lander and the Broad Institute for generating Control:Article Title: Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination Article Snippet: .. We thank the patients and their families for their cooperation in these studies; Dr. Fawzi al-Hammouri and the physicians and staff of the Specialty Hospital, Amman, Jordan, for assisting with clinical care for Patients 1, 2, and 3; Dr. Momen al-Hadidi and the staff of the Forensic Medicine Department at Al-Basheer Government Hospital, Amman, Jordan, for performing the autopsy and obtaining the brain after the death of Patient 2; Drs. Daniel Metzger, Susan Ratzan, Meriel McEntagart, and Sandra Sirrs for patient referrals; Dr. J. Michael Andresen for performing the initial linkage analysis; Drs. Christopher Walsh and Timothy Yu at Boston Children’s Hospital for sharing data from the Middle Eastern control patients; Carlotta Fitch and Dr. Kathy Newell for assisting with the neuropathological analyses; Dr. Omar Abu Hijleh for providing the early endocrine history of Patients 1 and 2; the staff of the Massachusetts General Hospital (MGH) Clinical Research Center for assisting with clinical protocols; members of the MGH Reproductive Endocrine Unit; and Eric Lander and the Broad Institute for generating |
