User profiles for M. A. Bekritsky
Mitchell BekritskyBioinformatics Scientist, Illumina Verified email at illumina.com Cited by 3395 |
Strelka2: fast and accurate calling of germline and somatic variants
We describe Strelka2 ( https://github.com/Illumina/strelka ), an open-source small-variant-calling
method for research and clinical germline and somatic sequencing applications. …
method for research and clinical germline and somatic sequencing applications. …
A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree
Improvement of variant calling in next-generation sequence data requires a comprehensive,
genome-wide catalog of high-confidence variants called in a set of genomes for use as a …
genome-wide catalog of high-confidence variants called in a set of genomes for use as a …
Detection of long repeat expansions from PCR-free whole-genome sequence data
…, JJ Van Vugt, RJ Shaw, MA Bekritsky… - Genome …, 2017 - genome.cshlp.org
Identifying large expansions of short tandem repeats (STRs), such as those that cause
amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read whole-…
amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read whole-…
Strelka2: Fast and accurate variant calling for clinical sequencing applications
We describe Strelka2 ( https://github.com/Illumina/strelka ), an open-source small variant
calling method for clinical germline and somatic sequencing applications. Strelka2 introduces a …
calling method for clinical germline and somatic sequencing applications. Strelka2 introduces a …
[PDF][PDF] De novo gene disruptions in children on the autistic spectrum
…, A Stepansky, J Troge, P Andrews, M Bekritsky… - Neuron, 2012 - cell.com
Exome sequencing of 343 families, each with a single child on the autism spectrum and at
least one unaffected sibling, reveal de novo small indels and point substitutions, which come …
least one unaffected sibling, reveal de novo small indels and point substitutions, which come …
[PDF][PDF] A reference dataset of 5.4 million human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree
Improvement of variant calling in next-generation sequence data requires a comprehensive,
genomewide catalogue of high-confidence variants called in a set of genomes for use as a …
genomewide catalogue of high-confidence variants called in a set of genomes for use as a …
[PDF][PDF] GENOMIC ANALYSIS OF CANCER AND HUMAN GENETIC DISORDERS
MWJAM Bekritsky, IHJKB Ma, J Hicks - core.ac.uk
The Wigler and Hicks group studies human cancer and genetic disorders from a population
genomics perspective. The cancer effort focuses on breast and prostate cancer (the latter …
genomics perspective. The cancer effort focuses on breast and prostate cancer (the latter …
[PDF][PDF] Detecting de novo microsatellite mutations in a population of families with sporadic autism
M Bekritsky - 2014 - newrepository.cshl.edu
ADDM Autism and Developmental Disabilities Monitoring AGRE Autism Genetic Resource
Exchange AIB1 amplified in breast cancer 1, also known as NCOA3, or nuclear receptor …
Exchange AIB1 amplified in breast cancer 1, also known as NCOA3, or nuclear receptor …
Opaque hydrogel prosthetic contact lens correction for the disfigured eye
…, R Garofalo, D Akerman, G Bekritsky - … Contact Lens Clinic, 1992 - Elsevier
… Bekritsky, MA, OD, received his bachelor of science and master of arts degrees in education
… Bekritsky joined the Wesley-lessen staff in mid-1983. Currently, he is Manager of Clinical …
… Bekritsky joined the Wesley-lessen staff in mid-1983. Currently, he is Manager of Clinical …
[CITATION][C] Kä llberg
S Kim, K Scheffler, AL Halpern, MA Bekritsky, E Noh - M., Chen, X., Kim, Y., Beyter, D …, 2018