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Martin G Reese

Showing results (21-30 of 27) with videos related to

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American Journal of Human Genetics|June 2, 2023
Response to Grosse et alStephen F Kingsmore, Laurie D Smith, Chris M Kunard, et al.
American Journal of Human Genetics|August 25, 2022
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseasesStephen F Kingsmore, Laurie D Smith, Chris M Kunard, et al.
Genome Research|June 24, 2009
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encodingKevin Judd McKernan, Heather E Peckham, Gina L Costa, et al.
Science Translational Medicine|April 26, 2019
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretationMichelle M Clark, Amber Hildreth, Sergey Batalov, et al.
Nature Communications|July 26, 2022
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseasesMallory J Owen, Sebastien Lefebvre, Christian Hansen, et al.
The New England Journal of Medicine|November 10, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report, Damian Smedley, Katherine R Smith, et al.
Genome Biology|March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeCatherine A Brownstein, Alan H Beggs, Nils Homer, et al.
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Showing results (21-30 of 27) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 27 results.
American Journal of Human Genetics|June 2, 2023
Response to Grosse et alStephen F Kingsmore, Laurie D Smith, Chris M Kunard, et al.
American Journal of Human Genetics|August 25, 2022
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseasesStephen F Kingsmore, Laurie D Smith, Chris M Kunard, et al.
Genome Research|June 24, 2009
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encodingKevin Judd McKernan, Heather E Peckham, Gina L Costa, et al.
Science Translational Medicine|April 26, 2019
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretationMichelle M Clark, Amber Hildreth, Sergey Batalov, et al.
Nature Communications|July 26, 2022
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseasesMallory J Owen, Sebastien Lefebvre, Christian Hansen, et al.
The New England Journal of Medicine|November 10, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report, Damian Smedley, Katherine R Smith, et al.
Genome Biology|March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeCatherine A Brownstein, Alan H Beggs, Nils Homer, et al.
Pageof 3