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Benjamin Solomon
Geneticist Opinions are my own
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Benjamin Solomon 8h
It was a terrific and inspiring symposium - thanks so much to all involved.
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Eric Green 9h
Every year, we bring the entire staff together for an internal symposium to highlight NHGRI’s latest research and programs. This has been a big year for NHGRI, and it has been fun virtually connecting with our wonderful staff for the past two days!
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Benjamin Solomon Oct 19
Congenital Hydrocephalus Exome Study Reveals Mutations in Early Brain Development Genes
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Benjamin Solomon Oct 19
Q313 You do whole-genome sequencing on a cohort of many thousands of patients with different, suspected Mendelian genetic conditions. For those for whom answers are found, most (but not all!) pathogenic variants are likely to be in the:
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Benjamin Solomon Oct 17
Replying to @I_MacFarlane
That is, do this ahead of time as much as possible - it’s incredibly impressive and allows the conversations to be really productive.
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Benjamin Solomon Oct 17
Replying to @I_MacFarlane
From someone who works closely with and has hired GCs: find out details and think very specifically about the roles/projects that they may be performing in order to enable much more interesting and in-depth conversations.
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Benjamin Solomon Oct 16
Replying to @BenjaminSolomo2
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Benjamin Solomon Oct 14
Developmental Disorder Study Identifies 28 Novel Disease Genes
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Eric Topol Oct 14
The discovery of 285 genes associated with development disorders from >31,000 parent-children trios' electronic records and exome sequence data. And that there are >1,000 more out there to find and colleagues
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National Human Genome Research Institute Oct 14
Every year the selects a scientist who has investigated an unusual occurrence that opens a new avenue of research. This year Dr. Collins has selected NHGRI’s Ellen Sidransky! Watch her discuss her research on November 4 at 3 p.m. ET.
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Benjamin Solomon Oct 12
Q312 A patient has a genetic form of albinism. What feature, associated with decreased visual acuity, would the patient most likely have?
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Erin Borbee Oct 10
How it started... How it’s going
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Benjamin Solomon Oct 9
Replying to @BenjaminSolomo2
Q311 answer: Compound heterozygous
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Yoni Maisel Oct 8
Replying to @Primary_Immune
This study suggests that, because of its high yield, comprehensive nature, and increasingly competitive costs... 🧬 ...genome sequencing is a potentially FIRST-TIER genetic test for children with unexplained medical complexity
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Benjamin Solomon Oct 7
Yoni, you should formally publish this information!
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National Human Genome Research Institute Oct 5
Meet the three witches of lysosomal function in neurodegeneration! researchers identified the interaction of three proteins as potential risk factors that affect lysosomal function. Studying the pathway may help generate potential therapies.
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Benjamin Solomon Oct 5
Q311 A patient has an autosomal recessive genetic condition. You notice that there are many reported pathogenic variants in the relevant gene; none are common in any populations. Based on this, the patient would probably be (re: the causative variants in this gene):
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Cedric 👾 Feschotte Oct 3
This beauty has a genome 10 times bigger than you
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Benjamin Solomon Oct 3
Replying to @BenjaminSolomo2
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ACMG Oct 2
. & ACMG are working together to train leaders in genomic medicine program management. Each week we will introduce you to one of our current fellows. This week meet 2020-2022 fellow Renee Rider, MS, JD, LCGC. is currently on rotation at ACMG, working with .
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