Rachel G. Son

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

Sanna Gudmundsson, Moriel Singer‐Berk, Sarah L. Stenton, Julia K. Goodrich et autres

us, se, Kenya, mx, gb, fr, ca, it, es, il, cr, hk, ie, fi, de, ee, au, be, pe (code pays fourni par la source)

Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes

Siwei Chen, Laurent C. Francioli, Julia K. Goodrich, Ryan L. Collins et autres

us, jp, mx, gb, it, il, fr, cr, hk, ca, es, de, ee, au, fi (code pays fourni par la source)

A genomic mutational constraint map using variation in 76,156 human genomes

Siwei Chen, Laurent C. Francioli, Julia K. Goodrich, Ryan L. Collins et autres

us, jp, mx, gb, it, il, fr, cr, hk, ca, es, de, ee, au, fi (code pays fourni par la source)

Inferring compound heterozygosity from large-scale exome sequencing data

Michael H. Guo, Laurent C. Francioli, Sarah L. Stenton, Julia K. Goodrich et autres

us, mx, gb, it, il, fr, cr, hk, fi, es, de, ee, au, se, kr (code pays fourni par la source)

Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel

Jennifer Goldstein, Jennifer McGlaughon, Dona Kanavy, Shelly Goomber et autres

us, ca (code pays fourni par la source)

Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data

Moriel Singer‐Berk, Sanna Gudmundsson, Samantha Baxter, Eleanor G. Seaby et autres

us, se, gb, au (code pays fourni par la source)

Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Alicia B. Byrne, Peer Arts, Thuong Ha, Karin S. Kassahn et autres

us, au (code pays fourni par la source)

Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data

Moriel Singer‐Berk, Sanna Gudmundsson, Samantha Baxter, Eleanor G. Seaby et autres

us, se, gb, au (code pays fourni par la source)

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Alicia B. Byrne, Peer Arts, Thuong Ha, Karin S. Kassahn et autres

us, au (code pays fourni par la source)

P559: Improved classification framework demonstrates many population predicted loss of function (pLoF) variants in genomic sequencing do not result in LoF*

Moriel Singer‐Berk, Sanna Gudmundsson, Samantha Baxter, Eleanor G. Seaby et autres

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Samantha Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira et autres

us, au (code pays fourni par la source)

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Julia K. Goodrich, Moriel Singer‐Berk, Rachel G. Son, Abigail Sveden et autres

us, mx, il, sg, gb, hk, cn, kr, de, dk, fi, se, gl, no, pk, ca (code pays fourni par la source)